The Effect of Inbreeding on the Distribution of Compound Heterozygotes: A Lesson from Lipase H Mutations in Autosomal Recessive Woolly Hair/Hypotrichosis

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Human Heredity, Vol. 68, Iss. 2, 2009-04 ,pp. : 117-130

Karger

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Novel mutations in G protein-coupled receptor gene ( P2RY5 ) in families with autosomal recessive hypotrichosis (LAH3)

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Human Genetics, Vol. 123, Iss. 5, 2008-06 ,pp. : 515-519

Springer Publishing Company

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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

By Najmabadi Hossein   Motazacker Mohammad   Garshasbi Masoud   Kahrizi Kimia   Tzschach Andreas   Chen Wei   Behjati Farkhondeh   Hadavi Valeh   Nieh Sahar   Abedini Seyedeh   Vazifehmand Reza   Firouzabadi Saghar   Jamali Payman   Falah Masoumeh   Seifati Seyed   Grüters Annette   Lenzner Steffen   Jensen Lars   Rüschendorf Franz   Kuss Andreas   Ropers H.  

Human Genetics, Vol. 121, Iss. 1, 2007-03 ,pp. : 43-48

Springer Publishing Company

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A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family

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Human Heredity, Vol. 60, Iss. 3, 2006-01 ,pp. : 123-128

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Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26-q27 in a Consanguineous Kindred from Pakistan

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Human Heredity, Vol. 55, Iss. 1, 2003-08 ,pp. : 71-74

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