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European Journal of Human Genetics : EJHG|July 28, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patientsChristopher Schroeder, Ulrike Faust, Luisa Krauße, et al.Journal of Intellectual Disability Research : JIDR|October 20, 2025
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA GuidelineMirthe J Klein Haneveld, Katarzyna Świeczkowska, Tomasz Grybek, et al.Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.Orphanet Journal of Rare Diseases|March 11, 2025
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning surveyDina Zucchi, Diana Marinello, Chiara Tani, et al.European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.Reproductive Health|November 26, 2025
Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" surveyGiovanni Fulvio, Diana Marinello, Dina Zucchi, et al.Pageof 6