Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism. Read more about Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
Copy number variation in bronchopulmonary dysplasia. Read more about Copy number variation in bronchopulmonary dysplasia.
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Read more about De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. Read more about The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. Read more about The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk. Read more about Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
Craniofacial and dental development in Costello syndrome. Read more about Craniofacial and dental development in Costello syndrome.
Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females. Read more about Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. Read more about CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Read more about The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
