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Clinical Genetics|May 9, 2014
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)M J Basehore, R Michaelson-Cohen, E Levy-Lahad, et al.
Clinical Genetics|April 24, 2014
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centersR M Patel, S C S Nagamani, D Cuthbertson, et al.
Clinical Genetics|April 8, 2014
Clinical application of genetics to guide prevention and treatment of oral diseasesK S Kornman, P J Polverini
Clinical Genetics|July 1, 1985
Guadalajara camptodactyly syndrome type IIJ M Cantú, D García-Cruz, J Gil-Viera, et al.
Clinical Genetics|February 19, 2008
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletionsV Paracchini, M Seia, D Coviello, et al.
Clinical Genetics|February 26, 2008
Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneityE S Edison, R V Shaji, S G Devi, et al.
Clinical Genetics|October 18, 2016
Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from PakistanH A Sawal, R Harripaul, A Mikhailov, et al.
Clinical Genetics|October 18, 2016
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomaliesY H Jee, N Sowada, T C Markello, et al.
Clinical Genetics|October 19, 2016
Recent insights on the genetics and epigenetics of endometriosisB Borghese, K T Zondervan, M S Abrao, et al.
Clinical Genetics|October 8, 2016
Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav 1.4 cause periodic paralysisC Fan, N Mao, F Lehmann-Horn, et al.
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