J. Martínez

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole‐exome sequencing

R. Pengelly, S. Ennis, J. Gibson, 2015, Clinical genetics.

1p microdeletion in sibs with minimal phenotypic manifestations.

W. Wertelecki, W. Gasparrini, C. Tuck-Muller, 1999, American journal of medical genetics.

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

W. Wertelecki, C. Tuck-Muller, J. Martínez, 1998, American journal of medical genetics.

Adrenal insufficiency in Smith-Lemli-Opitz syndrome.

H. Andersson, J. Frentz, C. Tuck-Muller, 1999, American journal of medical genetics.

Heterotaxia syndrome and autosomal dominant inheritance.

S. Taviaux, M. Pierpont, I. Dähnert, 1995, American journal of medical genetics.

FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation.

W. Wertelecki, C. Tuck-Muller, X. Mu, 2000, Southern medical journal.

Fraser syndrome caused by a new mutation in the FREM2 gene

L. R. Santos, C. Blázquez, J. Martínez, 2015 .

Confirmation of proximal 1q duplication using fluorescence in situ hybridization.

W. Wertelecki, H. Chen, C. Tuck-Muller, 1994, American journal of medical genetics.