Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Uhles CL"'
Autor:
Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: streff@bcm.edu., Uhles CL; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Fisher H; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Hudnall J; Department of Genetics and Metabolism, Children's Medical Center, Dallas, TX., Smith HS; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Mar; Vol. 25 (3), pp. 100350. Date of Electronic Publication: 2022 Dec 06.
Autor:
Shimada S; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Ng BG; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Turgeon C; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Liedtke KL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Lam CT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Font-Montgomery E; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA., Lourenco CM; Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Umana LA; Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Uhles CL; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Nickerson DA; Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA., Cushing T; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA., Gates R; Division of Medical Genetics, Stanford University, Stanford, California, USA., Gomez-Ospina N; Division of Medical Genetics, Stanford University, Stanford, California, USA., Byers HM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Scalco FB; Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Martinez NN; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Smith L; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Malone S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Harris RV; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Scheffer IE; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA., Adams DR; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Freeze HH; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., Wolfe LA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Jul 05. Date of Electronic Publication: 2022 Jul 05.
Autor:
Uhles CL; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA., Barnes S; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA.; Department of Pathology, Children's Medical Center Dallas, Dallas, Texas, USA., Uddin N; Department of Pathology, Children's Medical Center Dallas, Dallas, Texas, USA.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Umaña LA; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3821-3824. Date of Electronic Publication: 2021 Jul 08.
Autor:
Gotway G; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX., Crossley E; Department of Pathology, Children's Health System of Texas, Dallas, TX., Kozlitina J; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX., Xing C; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX., Fan J; Department of Genetics, Children's Health System of Texas, Dallas, TX., Hornbuckle C; Department of Genetics, Children's Health System of Texas, Dallas, TX., Thies J; Department of Genetics, Children's Health System of Texas, Dallas, TX., Michel D; Department of Genetics, Children's Health System of Texas, Dallas, TX., Quinn C; Department of Genetics, Children's Health System of Texas, Dallas, TX., Scheuerle AE; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX., Umana LA; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX., Uhles CL; Department of Genetics, Children's Health System of Texas, Dallas, TX., Park JY; Department of Pathology, Children's Health System of Texas, Dallas, TX.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX.
Publikováno v:
Clinical chemistry [Clin Chem] 2020 Jan 01; Vol. 66 (1), pp. 199-206.
Autor:
Liu P; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Meng L; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Normand EA; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Xia F; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Song X; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Ghazi A; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Rosenfeld J; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Magoulas PL; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Braxton A; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Ward P; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Dai H; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Yuan B; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Bi W; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Xiao R; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Wang X; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Chiang T; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Vetrini F; Baylor Genetics, Houston, TX., He W; Baylor Genetics, Houston, TX., Cheng H; Baylor Genetics, Houston, TX., Dong J; Baylor Genetics, Houston, TX., Gijavanekar C; Baylor Genetics, Houston, TX., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL., Bernstein JA; Stanford University School of Medicine, Stanford, CA., Eble T; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Eroglu Y; Oregon Health and Science University, Portland, OR., Erwin D; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Escobar L; St. Vincent's Peyton Manning Children's Hospital, Indianapolis, IN., Gibson JB; Dell Children's Medical Group, Austin, TX., Gripp K; A.I. DuPont Hospital for Children, Wilmington, DE., Kleppe S; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Koenig MK; UTHealth at McGovern Medical School, Houston, TX., Lewis AM; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Natowicz M; Cleveland Clinic, Cleveland, OH., Mancias P; UTHealth at McGovern Medical School, Houston, TX., Minor L; UTHealth at McGovern Medical School, Houston, TX., Scaglia F; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Schaaf CP; Heidelberg University, Heidelberg, Germany., Streff H; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Vernon H; Johns Hopkins School of Medicine, Baltimore, MD., Uhles CL; Children's Health Hospital, Dallas, TX., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA., Wu N; Peking Union Medical College Hospital, Beijing, China., Sutton VR; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Beaudet AL; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Muzny D; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Gibbs RA; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Posey JE; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Lalani S; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Shaw C; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Eng CM; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Lupski JR; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Yang Y; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2019 Jun 20; Vol. 380 (25), pp. 2478-2480.
Autor:
Harvey DJ; Department of Biochemistry, Oxford, UK.
Publikováno v:
Mass spectrometry reviews [Mass Spectrom Rev] 2024 Jun 24. Date of Electronic Publication: 2024 Jun 24.
Autor:
Ferrer A; Division of Hematology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Duffy P; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Meiners MA; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers L; Department of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Macke EL; The Institute of Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Safgren S; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Morales-Rosado JA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Rider D; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Williams M; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Dhamija R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kaiwar C; Children's Hospital Colorado, Aurora, CO, USA., Vitek CR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Wick MJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Departments of Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA., Vairo FPE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 May; Vol. 143 (5), pp. 649-666. Date of Electronic Publication: 2024 Mar 27.
Autor:
Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R., Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix
Publikováno v:
Journal of Medical Genetics; Jul2022, Vol. 59 Issue 7, p662-668, 10p
Autor:
Shearer, A. Eliot, Kenna, Margaret
Publikováno v:
Current Otorhinolaryngology Reports; Sep2020, Vol. 8 Issue 3, p250-258, 9p
Autor:
Nestor JG; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Marasa M; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Milo-Rasouly H; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Groopman EE; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Husain SA; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Mohan S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York.; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York., Fernandez H; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Aggarwal VS; Department of Pathology and Cell Biology, Columbia University, New York, New York., Ahram DF; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Vena N; Division of Nephrology, Department of Medicine, Columbia University, New York, New York.; Institute for Genomic Medicine, Columbia University, New York, New York., Bogyo K; Division of Nephrology, Department of Medicine, Columbia University, New York, New York.; Department of Pathology and Cell Biology, Columbia University, New York, New York., Bomback AS; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Radhakrishnan J; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Appel GB; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Ahn W; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Cohen DJ; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Canetta PA; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Dube GK; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Rao MK; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Morris HK; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Crew RJ; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Kiryluk K; Division of Nephrology, Department of Medicine, Columbia University, New York, New York., Gharavi AG; Division of Nephrology, Department of Medicine, Columbia University, New York, New York.; Institute for Genomic Medicine, Columbia University, New York, New York.
Publikováno v:
Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2020 May 07; Vol. 15 (5), pp. 651-664. Date of Electronic Publication: 2020 Apr 16.