Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Huckstadt, V."'
Autor:
Ramos-Mejía R; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina., Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain., Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Calcagni J; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina., Remondino R; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina., Fano V; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63469. Date of Electronic Publication: 2023 Nov 08.
Autor:
Del Pino M; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina., Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Diaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain., Obregon MG; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Heath KE; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Fano V; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2240-2244. Date of Electronic Publication: 2023 May 02.
Autor:
Chinton J; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Foncuberta ME; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Perez MM; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Bonetto MC; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gravina LP; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2505-2508. Date of Electronic Publication: 2022 Jun 11.
Autor:
Suter, A., Perez, A. Abad, Santos-Simarro, F., Toerring, P., Ramos-Mejia, R., Heath, K., Huckstadt, V., Parron-Pajares, M., Mensah, M., Huelsemann, W., Holtgrewe, M., Mundlos, S., Kornak, U., Bartsch, O., Ehmke, N.
Publikováno v:
Suter, A, Perez, A A, Santos-Simarro, F, Toerring, P, Ramos-Mejia, R, Heath, K, Huckstadt, V, Parron-Pajares, M, Mensah, M, Huelsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' The phenotypic spectrum of Chitayat syndrome: Six additional affected individuals ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, P04.15.C, pp. 235 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::f8c9fe2cd4011c20f36c611aad8230c7
https://portal.findresearcher.sdu.dk/da/publications/dab595ef-35b7-4f73-a6ed-ad4925f7f5b6
https://portal.findresearcher.sdu.dk/da/publications/dab595ef-35b7-4f73-a6ed-ad4925f7f5b6
Autor:
Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Fleischer N; FDNA Inc., Boston, Massachusetts, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Lotz-Esquivel S; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Saborio-Rocafort M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Penon Portmann M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Abdul-Rahman OA; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Uwineza A; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ifeorah IK; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria., Llamos Paneque A; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Lee S; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kitchin CS; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Diaz-Kuan A; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Mutesa L; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Ekure EN; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. Date of Electronic Publication: 2020 Sep 27.
Autor:
Chinton J; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Mucciolo M; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy., Lepri F; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy., Gravina LP; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 409-414. Date of Electronic Publication: 2019 Dec 11.
Autor:
Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Chinton J; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gomez A; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gravina LP; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1256-1260. Date of Electronic Publication: 2021 Jan 25.
Autor:
Rebolledo-Jaramillo B; Center for Genetics and Genomics, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago 7710162, Chile., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires C1249ABP, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires C1249ABP, Argentina., Gomez A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires C1249ABP, Argentina., Repetto GM; Center for Genetics and Genomics, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago 7710162, Chile.
Publikováno v:
Genes [Genes (Basel)] 2021 Jan 13; Vol. 12 (1). Date of Electronic Publication: 2021 Jan 13.
Autor:
Suter AA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz and CIBERER, ISCIII, Madrid, Spain., Toerring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Abad Perez A; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Ramos-Mejia R; Department of Growth and Development, Garrahan Hospital, Buenos Aires, Argentina., Heath KE; Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz and CIBERER, ISCIII, Madrid, Spain., Huckstadt V; Department of Genetics, Garrahan Hospital, Buenos Aires, Argentina., Parrón-Pajares M; Department of Radiology and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain., Mensah MA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Hülsemann W; Handchirurgie Kinderkrankenhaus Wilhelmstift, Hamburg, Germany., Holtgrewe M; Core Unit Bioinformatics - CUBI, Berlin Institute of Health (BIH), Berlin, Germany., Mundlos S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Bartsch O; Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2068-2076. Date of Electronic Publication: 2020 Jun 27.
Autor:
Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Savage SK; FDNA Inc., Boston, Massachusetts., Gupta N; Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Aravena T; Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Patil SJ; Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore, India., Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Goh JC; Division of Nursing - Nursing Specialist Services, KK Women's and Children's Hospital, Singapore, Singapore., Utari A; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Sihombing N; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mishra R; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Chitrakar NS; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Iriele BC; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Lulseged E; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Megarbane A; Institut Jérôme Lejeune, Paris, France., Uwineza A; College of Medicine and Pharmacy, School of Medicine and Pharmacy, Center of Human Genetics, University of Rwanda, Kigali, Rwanda., Oyenusi EE; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Olopade OB; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Fasanmade OA; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Duenas-Roque MM; Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tung JYL; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Mok GTK; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Fleischer N; FDNA Inc., Boston, Massachusetts., Rwegerera GM; Department of Internal Medicine, University of Botswana, Gaborone, Botswana., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Watts J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., Ashaat NA; Faculty of Women for Science, Ain Shams University, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Badoe E; Department of Child Health, University of Ghana Medical School, Accra, Ghana., Faradz SMH; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., El Ruby MO; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ekure EN; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 303-313. Date of Electronic Publication: 2019 Dec 19.