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Plos Genetics|March 22, 2013
Rare copy number variants are a common cause of short statureDiana Zahnleiter, Steffen Uebe, Arif B Ekici, et al.Neurogenetics|July 25, 2018
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 17, 2006
Open and laparoscopic living donor nephrectomy in Switzerland: a retrospective assessment of clinical outcomes and the motivation to donateFelix Dahm, Markus Weber, Benjamin Müller, et al.Neurobiology of Aging|May 29, 2017
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patientsMatthias Türk, Rolf Schröder, Katharina Khuller, et al.BMC Cancer|September 28, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteriaJuliane Hoyer, Georgia Vasileiou, Steffen Uebe, et al.Biorxiv : the Preprint Server for Biology|March 27, 2026
Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellumAdam W Avery, Brennon L O'Callaghan, Matthew T Thiel, et al.Journal of Medical Genetics|October 22, 2009
Disruption of ST5 is associated with mental retardation and multiple congenital anomaliesIna Göhring, Andreas Tagariello, Sabine Endele, et al.American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.Neuroimage|October 7, 2003
A voxel-based morphometric MRI study in female patients with borderline personality disorderN Rüsch, L Tebartz van Elst, P Ludaescher, et al.American Journal of Medical Genetics. Part A|September 17, 2021
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)Katalin L M L Hetzelt, Martin Winterholler, Frank Kerling, et al.Pageof 17