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Children (Basel, Switzerland)|July 2, 2021
Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the <i>ATM</i> Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System LymphomaJan R Dörr, Anne Thorwarth, Agnieszka Mizia-Malarz, et al.
The Journal of Clinical Endocrinology and Metabolism|May 7, 2009
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the youngKlemens Raile, Eva Klopocki, Martin Holder, et al.
Cancers|July 27, 2022
Frequency of Positive Familial Criteria in Patients with Adenocarcinoma of the Esophageal-Gastric Junction and Stomach: First Prospective Data in a Caucasian CohortJan Schölzchen, Christoph Treese, Peter Thuss-Patience, et al.
American Journal of Medical Genetics. Part A|January 23, 2016
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencingLuisa Mackenroth, Björn Fischer-Zirnsak, Johannes Egerer, et al.
Journal of Medical Internet Research|October 22, 2020
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy StudyJean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, et al.
American Journal of Medical Genetics. Part A|December 11, 2012
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionKimberly A Aldinger, Jillene Kogan, Virginia Kimonis, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblingsMagdalena Danyel, Zhuo Cheng, Christine Jung, et al.
European Journal of Human Genetics : EJHG|April 28, 2005
Childhood overgrowth in patients with common NF1 microdeletionsMiriam Spiegel, Konrad Oexle, Denise Horn, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch, Konstanze Gebauer, Stanislav Lechno, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defectsMaria Arélin, Bernt Schulze, Bertram Müller-Myhsok, et al.
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