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Clinical Genetics|September 24, 2017
Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosisS Amin, N Forrester, A Norman, et al.
Clinical Genetics|September 24, 2017
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegenerationS K Bublitz, B Alhaddad, M Synofzik, et al.
Clinical Genetics|September 24, 2017
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani familyS Yousaf, S A Sheikh, S Riazuddin, et al.
Clinical Genetics|September 24, 2017
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowthJ H McDermott, N Hickson, I Banerjee, et al.
Clinical Genetics|September 1, 2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndromeM Niceta, K Margiotti, M C Digilio, et al.
Clinical Genetics|September 1, 2017
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?F Lonardo, M S Lonardo, F Acquaviva, et al.
Clinical Genetics|July 15, 2016
Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM studyP Suchon, F Al Frouh, M Ibrahim, et al.
Clinical Genetics|September 15, 2017
TSGA10 is a novel candidate gene associated with acephalic spermatozoaY-W Sha, Y-K Sha, Z-Y Ji, et al.
Clinical Genetics|March 1, 1987
An abnormal pattern of amniotic fluid microvillar enzymes signalling fetal cystic fibrosisD J Brock, H A Clarke
Clinical Genetics|June 1, 1989
Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometryN G Laing, T Siddique, R Bartlett, et al.
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