Showing results (21-30 of 79) with videos related to

Sort By:
Pageof 8
Human Mutation|November 5, 2011
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfectaVíctor Martínez-Glez, Maria Valencia, José A Caparrós-Martín, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
Clinical Genetics|January 24, 2020
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributorJair Tenorio, Julián Nevado, Antonio González-Meneses, et al.
Molecular Genetics & Genomic Medicine|March 18, 2021
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndromeFe Amalia García-Santiago, Cristina Martínez-Payo, Elena Mansilla, et al.
Frontiers in Medicine|May 17, 2021
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial HypertensionShaun Pienkos, Natalia Gallego, David F Condon, et al.
International Journal of Molecular Sciences|April 14, 2026
Enhancing Type 1 Diabetes Polygenic Risk Prediction Through Neural Networks and Entropy-Derived InsightsAntonio Nadal-Martínez, Guillermo Pérez-Solero, Sandra Ferreiro López, et al.
Life (Basel, Switzerland)|August 29, 2024
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian CohortSamuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Defining the clinical validity of genes reported to cause pulmonary arterial hypertensionCarrie L Welch, Micheala A Aldred, Srimmitha Balachandar, et al.
Clinical Genetics|November 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver AbnormalitiesNatalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, et al.
Nucleic Acids Research|October 14, 2020
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbancesAna Monteagudo-Sánchez, Jose Ramon Hernandez Mora, Carlos Simon, et al.
Pageof 8