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American Journal of Human Genetics|November 25, 2003
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalitiesLisenka E L M Vissers, Bert B A de Vries, Kazutoyo Osoegawa, et al.Prenatal Diagnosis|April 26, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingChantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, et al.Kidney International|April 22, 2019
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesJung-Hyun Kim, Eun Young Park, David Chitayat, et al.Clinical and Translational Science|June 1, 2022
Safety, pharmacokinetics and target engagement of novel RIPK1 inhibitor SAR443060 (DNL747) for neurodegenerative disorders: Randomized, placebo-controlled, double-blind phase I/Ib studies in healthy subjects and patientsMaurits F J M Vissers, Jules A A C Heuberger, Geert Jan Groeneveld, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.European Journal of Human Genetics : EJHG|July 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseasesAleš Maver, Katja Lohmann, Lena-Marie Urbanczyk, et al.American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.Pageof 41