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American Journal of Medical Genetics. Part A|April 14, 2009
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, et al.Journal of Clinical Immunology|August 15, 2023
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire DiversityKristian Assing, Sofie E Jørgensen, Katrine S Sandgaard, et al.The Journal of Allergy and Clinical Immunology|December 27, 2011
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiencyTeresa Caballero, Henriette Farkas, Laurence Bouillet, et al.Acta Obstetricia Et Gynecologica Scandinavica|November 24, 2020
National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017Ida C B Lund, Olav B Petersen, Naja H Becher, et al.American Journal of Human Genetics|January 7, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos diseaseF Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, et al.Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.American Journal of Human Genetics|May 29, 2018
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term OutcomesChristina Halgren, Nete M Nielsen, Lusine Nazaryan-Petersen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderHolly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.Pageof 5