Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1414-1417

John Wiley & Sons Inc

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

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Molecular Syndromology, Vol. 3, Iss. 1, 2012-06 ,pp. : 6-13

Karger

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

By Marconi R.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 567-574

Oxford University Press

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Next generation sequencing identifies mutations in Atonal homolog 7 ( ATOH7) in families with global eye developmental defects

By Khan Kamron   Logan Clare V.   McKibbin Martin   Sheridan Eamonn   Elçioglu Nursel H.   Yenice Ozlem   Parry David A.   Fernandez-Fuentes Narcis   Abdelhamed Zakia I.A.   Al-Maskari Ahmed   Poulter James A.   Mohamed Moin D.   Carr Ian M.   Morgan Joanne E.   Jafri Hussain   Raashid Yasmin   Taylor Graham R.   Johnson Colin A.   Inglehearn Chris F.   Toomes Carmel   Ali Manir  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 776-783

Oxford University Press

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

By Winkelmann Juliane   Lin Ling   Schormair Barbara   Kornum Birgitte R.   Faraco Juliette   Plazzi Giuseppe   Melberg Atle   Cornelio Ferdinando   Urban Alexander E.   Pizza Fabio   Poli Francesca   Grubert Fabian   Wieland Thomas   Graf Elisabeth   Hallmayer Joachim   Strom Tim M.   Mignot Emmanuel  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2205-2210

Oxford University Press

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