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Meral Gunay-Aygun

Showing results (1-10 of 66) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 31, 2009
Liver and kidney disease in ciliopathiesMeral Gunay-Aygun
Translational Science of Rare Diseases|November 26, 2019
Clinical characteristics of individual organ system disease in non-motile ciliopathiesAngela Grochowsky, Meral Gunay-Aygun
Platelets|December 2, 2010
The York Platelet Syndrome: a third caseJames G White, Meral Gunay-Aygun
Pediatric Nephrology (Berlin, Germany)|September 28, 2024
Diseases of the primary cilia: a clinical characteristics reviewBakri Alzarka, Olga Charnaya, Meral Gunay-Aygun
Seminars in Thrombosis and Hemostasis|October 22, 2004
Molecular defects that affect platelet dense granulesMeral Gunay-Aygun, Marjan Huizing, William A Gahl
Proceedings of the American Thoracic Society|September 20, 2011
Spectrum of clinical diseases caused by disorders of primary ciliaStephanie M Ware, Meral Gunay- Aygun, Friedhelm Hildebrandt
American Journal of Medical Genetics. Part A|April 1, 2015
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosisAdam Diehl, Weiyi Mu, Denise Batista, et al.
American Journal of Medical Genetics. Part A|December 24, 2021
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individualsJasmine Knoll, Burak Altintas, William A Gahl, et al.
Annual Review of Genomics and Human Genetics|June 12, 2008
Disorders of lysosome-related organelle biogenesis: clinical and molecular geneticsMarjan Huizing, Amanda Helip-Wooley, Wendy Westbroek, et al.
Case Reports in Genetics|September 9, 2022
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and PyridoxineJiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, et al.
Pageof 7

Showing results (1-10 of 66) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 31, 2009
Liver and kidney disease in ciliopathiesMeral Gunay-Aygun
Translational Science of Rare Diseases|November 26, 2019
Clinical characteristics of individual organ system disease in non-motile ciliopathiesAngela Grochowsky, Meral Gunay-Aygun
Platelets|December 2, 2010
The York Platelet Syndrome: a third caseJames G White, Meral Gunay-Aygun
Pediatric Nephrology (Berlin, Germany)|September 28, 2024
Diseases of the primary cilia: a clinical characteristics reviewBakri Alzarka, Olga Charnaya, Meral Gunay-Aygun
Seminars in Thrombosis and Hemostasis|October 22, 2004
Molecular defects that affect platelet dense granulesMeral Gunay-Aygun, Marjan Huizing, William A Gahl
Proceedings of the American Thoracic Society|September 20, 2011
Spectrum of clinical diseases caused by disorders of primary ciliaStephanie M Ware, Meral Gunay- Aygun, Friedhelm Hildebrandt
American Journal of Medical Genetics. Part A|April 1, 2015
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosisAdam Diehl, Weiyi Mu, Denise Batista, et al.
American Journal of Medical Genetics. Part A|December 24, 2021
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individualsJasmine Knoll, Burak Altintas, William A Gahl, et al.
Annual Review of Genomics and Human Genetics|June 12, 2008
Disorders of lysosome-related organelle biogenesis: clinical and molecular geneticsMarjan Huizing, Amanda Helip-Wooley, Wendy Westbroek, et al.
Case Reports in Genetics|September 9, 2022
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and PyridoxineJiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, et al.
Pageof 7