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Clinical Genetics|February 4, 2017
PAX9 gene mutations and tooth agenesis: A reviewO Bonczek, V J Balcar, O Šerý
Clinical Genetics|March 21, 2017
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic typeE Reinstein, V Drasinover, R Lotan, et al.
Clinical Genetics|March 21, 2017
A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kbT Ohnesorg, J A van den Bergen, D Belluoccio, et al.
Clinical Genetics|October 27, 2018
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndromeTin K Chan, Mohammed K Alkaabi, Ahmed M ElBarky, et al.
Clinical Genetics|January 27, 2017
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndromeS Takahashi, M Matsufuji, C Yonee, et al.
Clinical Genetics|January 25, 2017
Genetic profile of Brazilian patients with dystrophinopathiesP A D de Almeida, M C Machado-Costa, G N Manzoli, et al.
Clinical Genetics|January 18, 2017
BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserveA Mayer, B Fouquet, M Pugeat, et al.
Clinical Genetics|January 18, 2017
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotypeP Klemetti, H Valta, S Kostjukovits, et al.
Clinical Genetics|April 25, 2017
A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndromeM J Nirenberg, R Chaouni, T M Biller, et al.
Clinical Genetics|January 31, 2014
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 geneG Negri, D Milani, P Colapietro, et al.
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