A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

By Reamon-Buettner Stella Marie   Ciribilli Yari   Inga Alberto   Borlak Juergen  

Human Molecular Genetics, Vol. 17, Iss. 10, 2008-05 ,pp. : 1397-1405

Oxford University Press

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Non-Coding Loss-of-Function Variation in Human Genomes

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Human Heredity, Vol. 81, Iss. 2, 2017-01 ,pp. : 78-87

Karger

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The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

By Schtz Melanie   Scimemi Pietro   Majumder Paromita   De Siati Romolo Daniele   Crispino Giulia   Rodriguez Laura   Bortolozzi Mario   Santarelli Rosamaria   Seydel Anke   Sonntag Stephan   Ingham Neil   Steel Karen P.   Willecke Klaus   Mammano Fabio  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4759-4773

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

By Takano Kyoko   Liu Dan   Tarpey Patrick   Gallant Esther   Lam Alex   Witham Shawn   Alexov Emil   Chaubey Alka   Stevenson Roger E.   Schwartz Charles E.   Board Philip G.   Dulhunty Angela F.  

Human Molecular Genetics, Vol. 21, Iss. 20, 2012-10 ,pp. : 4497-4507

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A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

By Chatterjee K.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2051-2059

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