Zobrazeno 1 - 10
of 536
pro vyhledávání: '"Witmer PD"'
Autor:
Shafique A; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan., Nadeem A; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan., Aslam F; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan., Manzoor H; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan., Noman M; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.; Department of Biochemistry, Faisalabad Medical University, Faisalabad, Pakistan., Wohler E; McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Naz S; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan. naz.sbs@pu.edu.pk.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jun 21; Vol. 14 (1), pp. 14331. Date of Electronic Publication: 2024 Jun 21.
Autor:
Jelin AC; Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States., Sopko N; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States., Sobreira N; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, United States., Boyadjiev SA; Department of Pediatrics, University of California Davis, Davis, CA, United States., Wohler E; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States., Morrill C; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States., Witmer PD; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States., Michaud J; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States., Valle D; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States., Gearhart J; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States., Dicarlo H; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Jun 05; Vol. 15, pp. 1266210. Date of Electronic Publication: 2024 Jun 05 (Print Publication: 2024).
Autor:
Hildebrand, Michael S., Witmer, P. Dane, Xu, Shunbin, Newton, Stephen S., Kahrizi, Kimia, Najmabadi, Hossein, Valle, David, Smith, Richard J.H.
Publikováno v:
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p646-652, 7p
Autor:
Thaxton C; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.; Lead contact., Goldstein J; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., DiStefano M; Precision Health Program, Geisinger, Danville, PA 17822, USA., Wallace K; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Witmer PD; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD 21218, USA., Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Publikováno v:
Cell genomics [Cell Genom] 2022 May 11; Vol. 2 (5).
Autor:
Ramzan M; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan.; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Philippe C; UF Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, Dijon, France., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Nakano Y; Department of Anatomy and Cell Biology, University of Iowa, Iowa City, Iowa, USA.; Inflammation Program, University of Iowa, Iowa City, Iowa, USA., Fenollar-Ferrer C; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.; Laboratory of Molecular & Cellular Neurobiology, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA., Tona R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Yousaf R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Basheer R; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan., Imtiaz A; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Faridi R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Munir Z; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan., Idrees H; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan., Salman M; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan., Nambot S; INSERM UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, Dijon, France.; Department of Medical Genetics, Reference Center for Developmental Anomalies, Dijon University Hospital, Dijon, France., Vitobello A; UF Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, Dijon, France., Kartti S; Medical Biotechnology Laboratory (MedBiotech), Bioinova Research Center, Rabat Medical & Pharmacy School, Mohammed Vth University, Rabat, Morocco., Zarrik O; Medical Biotechnology Laboratory (MedBiotech), Bioinova Research Center, Rabat Medical & Pharmacy School, Mohammed Vth University, Rabat, Morocco., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, Maryland, USA., Sobreria N; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, Maryland, USA., Ibrahimi A; Medical Biotechnology Laboratory (MedBiotech), Bioinova Research Center, Rabat Medical & Pharmacy School, Mohammed Vth University, Rabat, Morocco., Banfi B; Department of Anatomy and Cell Biology, University of Iowa, Iowa City, Iowa, USA.; Inflammation Program, University of Iowa, Iowa City, Iowa, USA.; Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA.; Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA., Moutton S; INSERM UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, Dijon, France.; Department of Medical Genetics, Reference Center for Developmental Anomalies, Dijon University Hospital, Dijon, France., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA., Naz S; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, Pakistan.
Publikováno v:
Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1321-1335. Date of Electronic Publication: 2021 Aug 01.
Autor:
Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Aleck KA; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA., Antaki D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Al Sharhan H; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Au PB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA., Brand H; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Buyske S; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA., Chodirker B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Choi J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea., Chudley AE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Clericuzio CL; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Curry C; University of California, San Francisco, California, USA.; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA., de Boer E; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands., de Vries BBA; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands., Dunn K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Dutmer CM; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA., England EM; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA., Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey., Gibson WT; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Greenberg CR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Hall A; Waisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA., Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Lauzon JL; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lewis MES; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Lowry RB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., López-Giráldez F; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Matise TC; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., McInnes B; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Mhanni A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Garcia Minaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain., Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland., Nguyen A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Õunap K; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Penney LS; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Poterba T; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy., Doriqui MJR; Complexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil., Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey., Wargowski D; Division of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wong I; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Xing J; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zhang Y; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA., Nickerson DA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 119-133. Date of Electronic Publication: 2020 Oct 24.
Autor:
Schnappauf O; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. oskar.schnappauf@nih.gov., Zhou Q; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Moura NS; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Ombrello AK; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Michael DG; Department of Laboratory Medicine, Center for Genetic Medicine Research, Children's National, Washington, DC, USA., Deuitch N; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Barron K; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Stone DL; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Hoffmann P; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Hershfield M; Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, USA., Applegate C; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bjornsson HT; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Reykjavik, Iceland., Beck DB; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Chiorini JA; Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA., Center TAG; Collaborative Health Initiative Research Program, Henry Jackson Foundation, Bethesda, MD, USA., Dalgard CL; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Center NIS; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Kastner DL; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Aksentijevich I; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2020 Aug; Vol. 40 (6), pp. 917-926. Date of Electronic Publication: 2020 Jul 08.
Autor:
Ramzan M; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, 54590, Pakistan., Bashir R; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, 54590, Pakistan.; Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan., Salman M; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, 54590, Pakistan.; Virtual University of Pakistan, Lahore, Pakistan., Mujtaba G; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, 54590, Pakistan.; Institute of Nuclear Medicine and Oncology (INMOL), Lahore, Pakistan., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Johns Hopkins Genomics, Johns Hopkins University, Baltimore, MD, USA., Naz S; School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore, 54590, Pakistan. naz.sbs@pu.edu.pk.
Publikováno v:
Scientific reports [Sci Rep] 2020 Jul 17; Vol. 10 (1), pp. 11902. Date of Electronic Publication: 2020 Jul 17.
Autor:
Jelin AC; Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Wohler E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Solomon B; GeneDx, Bethesda, MD, USA., Sparks T; Department of Obstetrics, Gynecology & Reproductive Sciences, Division of Maternal Fetal Medicine, University of California, San Francisco, CA, USA., Sagaser KG; Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA., Forster KR; Department of Gynecology and Obstetrics, Center for Fetal Therapy, Johns Hopkins School of Medicine, Baltimore, MD, USA., Miller J; Department of Gynecology and Obstetrics, Center for Fetal Therapy, Johns Hopkins School of Medicine, Baltimore, MD, USA., Witmer PD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Blakemore K; Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2020 Apr; Vol. 40 (5), pp. 590-595. Date of Electronic Publication: 2020 Feb 17.
Autor:
Gupta, Naman1 (AUTHOR), Somayajulu, Mallika1 (AUTHOR), Gurdziel, Katherine2 (AUTHOR), LoGrasso, Giovanni1 (AUTHOR), Aziz, Haidy3 (AUTHOR), Rosati, Rita4 (AUTHOR), McClellan, Sharon1 (AUTHOR), Pitchaikannu, Ahalya1 (AUTHOR), Santra, Manoranjan1 (AUTHOR), Shukkur, Muhammed Farooq Abdul1 (AUTHOR), Stemmer, Paul4 (AUTHOR), Hazlett, Linda D.1 (AUTHOR), Xu, Shunbin1 (AUTHOR) sxu@med.wayne.edu
Publikováno v:
Scientific Reports. 4/1/2024, Vol. 14 Issue 1, p1-23. 23p.