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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and KAL1[original query]
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8.
Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud
A genetic basis for functional hypothalamic amenorrhea.
The New England journal of medicine 2011 Jan 364 (3): 215-25.
Caronia Lisa M, Martin Cecilia, Welt Corrine K, Sykiotis Gerasimos P, Quinton Richard, Thambundit Apisadaporn, Avbelj Magdalena, Dhruvakumar Sadhana, Plummer Lacey, Hughes Virginia A, Seminara Stephanie B, Boepple Paul A, Sidis Yisrael, Crowley William F, Martin Kathryn A, Hall Janet E, Pitteloud Nel
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9.
Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri
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