Identification of a CA/TG Repeat Polymorphism Proximal to the Human DLX3 Gene

By  

Human Heredity, Vol. 48, Iss. 5, 1998-10 ,pp. : 288-290

Karger

Access to resources Recommend Favorite

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

By Sprunger L.K.  

Human Molecular Genetics, Vol. 8, Iss. 3, 1999-03 ,pp. : 471-479

Oxford University Press

Access to resources Recommend Favorite

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

By Tammachote Rachaneekorn   Hommerding Cynthia J.   Sinders Rachel M.   Miller Caroline A.   Czarnecki Peter G.   Leightner Amanda C.   Salisbury Jeffrey L.   Ward Christopher J.   Torres Vicente E.   Gattone Vincent H.   Harris Peter C.  

Human Molecular Genetics, Vol. 18, Iss. 17, 2009-09 ,pp. : 3311-3323

Oxford University Press

Access to resources Recommend Favorite

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 727-732

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1323-1329

John Wiley & Sons Inc

Access to resources Recommend Favorite