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Journal of Clinical Research in Pediatric Endocrinology|January 29, 2011
CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish childrenFirdevs Baş, Hülya Kayserili, Feyza Darendeliler, et al.Laryngo- Rhino- Otologie|March 30, 2021
[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]Helen Stromiedel, Chantal Van Quekelberghe, Gökhan Yigit, et al.American Journal of Medical Genetics. Part A|March 27, 2020
Human RAD50 deficiency: Confirmation of a distinctive phenotypeAviël Ragamin, Gökhan Yigit, Kristine Bousset, et al.Human Mutation|October 23, 2009
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumbDagmar Wieczorek, Barbara Pawlik, Yun Li, et al.American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.Iscience|September 21, 2023
N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobodyArne Zibat, Xiaoxiao Zhang, Antje Dickmanns, et al.Cancers|July 27, 2022
TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic CancerLennart Versemann, Shilpa Patil, Benjamin Steuber, et al.Human Molecular Genetics|January 7, 2015
CRIM1 haploinsufficiency causes defects in eye development in human and mouseFilippo Beleggia, Yun Li, Jieqing Fan, et al.Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.The Journal of Clinical Endocrinology and Metabolism|January 15, 2025
Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosisEdip Unal, Aysel Tekmenuray-Unal, Atilla Cayir, et al.Pageof 17