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Journal of Medical Genetics|July 1, 1995
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13qG Van Camp, M N Van Thienen, I Handig, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 13, 1999
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophagesS J Smith, A K Rucka, J L Berry, et al.Clinical Genetics|December 8, 2016
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluatorA Lumaka, N Cosemans, A Lulebo Mampasi, et al.American Journal of Human Genetics|April 1, 2008
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormalityJ A Fantes, E Boland, J Ramsay, et al.Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.Human Genetics|March 1, 1996
The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)P S Rowe, J N Goulding, F Francis, et al.Nature Genetics|February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault, N Bondurand, K Kuhlbrodt, et al.American Journal of Human Genetics|December 15, 2000
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertensionR D Machado, M W Pauciulo, J R Thomson, et al.Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.Pageof 19