Results 71 to 80 of about 211 (109)

The genetics of deafness. [PDF]

Arch Dis Child, 1990
Reardon W, Pembrey M.
europepmc   +1 more source

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? [PDF]

J Med Genet, 1994
Fewtrell MS, Tam PK, Thomson AH, Fitchett M, Currie J, Huson SM, Mulligan LM.   +6 more
europepmc   +1 more source

Hirschsprung's disease, distinctive facies, and microcephaly. [PDF]

J Med Genet, 1989
Bankier A.
europepmc   +1 more source

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. [PDF]

J Med Genet, 1998
Carey ML, Friedman TB, Asher JH, Innis JW.   +3 more
europepmc   +1 more source

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. [PDF]

J Med Genet, 1995
Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC.   +6 more
europepmc   +1 more source

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. [PDF]

J Med Genet, 1996
Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC.   +8 more
europepmc   +1 more source

Functional conservation of the Drosophila gooseberry gene and its evolutionary alleles.

PLoS One, 2012
Liu W, Xue L.
europepmc   +1 more source