Showing results (11-20 of 81) with videos related to
Sort By:
Pageof 9
European Journal of Haematology|May 24, 2014
Transient myeloproliferative disorder in neonates without Down syndrome: case report and reviewAlexandra Schifferli, Johann Hitzler, Deborah Bartholdi, et al.Journal of Nephrology|April 22, 2026
Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variantsHeidi Sarrasin, Daniel Sidler, Deborah Bartholdi, et al.European Journal of Human Genetics : EJHG|December 4, 2004
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndromeEva Wey, Deborah Bartholdi, Mariluce Riegel, et al.Molecular Genetics & Genomic Medicine|February 27, 2020
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephalyNicole Meier, Elisabeth Bruder, Peter Miny, et al.American Journal of Medical Genetics. Part A|June 25, 2013
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDeborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.Fetal and Pediatric Pathology|December 14, 2007
Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic archAnnette Zimpfer, Peter Miny, Ulrike Dombrowski, et al.Diagnostic Pathology|August 12, 2011
Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?Matthias Dettmer, Peter Itin, Peter Miny, et al.European Journal of Human Genetics : EJHG|June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Dennis Döcker, Max Schubach, Moritz Menzel, et al.Pediatric Rheumatology Online Journal|April 12, 2022
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case reportPhilip Broser, Ursula von Mengershausen, Katrin Heldt, et al.BMC Medical Genetics|March 2, 2017
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingRamona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, et al.Pageof 9