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European Journal of Medical Genetics|December 7, 2007
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y Kroes, Patrick H A van Zon, Dietje Fransen van de Putte, et al.Journal of Dermatological Science|March 4, 2026
Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratodermaVanya S V J Rossel, Jaap J A J van der Velden, Renske Janssen, et al.Gastroenterology|March 31, 2018
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung DiseaseYunia Sribudiani, Rajendra K Chauhan, Maria M Alves, et al.Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, et al.Human Genetics|March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for JARID2-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.Clinical Epigenetics|August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosisDeborah J G Mackay, Gabriella Gazdagh, David Monk, et al.Pageof 6