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European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Prenatal Diagnosis|July 19, 2002
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionalsTheresa M Marteau, Irma Nippert, Sue Hall, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Journal of Medical Genetics|April 13, 2023
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndromeRicardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Genetics|March 20, 2009
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
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