Ravikumar Balasubramanian, M.B.,B.S.
This page shows the publications co-authored by Ravikumar Balasubramanian and James Gusella.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci U S A. 2014 Dec 16; 111(50):17953-8.
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. J Clin Endocrinol Metab. 2020 03 01; 105(3).
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. J Clin Endocrinol Metab. 2015 Oct; 100(10):E1378-85.
An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet. 2012 Oct 01; 21(19):4314-24.
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