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The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2007
New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bankHolger Tönnies, Joanna Pietrzak, Ewa Bocian, et al.
Nature Genetics|January 24, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm, Denise Horn, Isabella Wimplinger, et al.
Kidney International Reports|August 19, 2024
Pathogenic PHIP Variants are Variably Associated With CAKUTJonathan de Fallois, Tobias Sieckmann, Ria Schönauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2012
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patientsSarah Vergult, A Jeannette M Hoogeboom, Emilia K Bijlsma, et al.
Human Genetics|September 19, 2003
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classificationHeike Starke, Angela Nietzel, Anja Weise, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotypeSérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Clinical Genetics|May 16, 2019
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesLorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
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