Automatic recognition of the XLHED phenotype from facial images. Read more about Automatic recognition of the XLHED phenotype from facial images.
Lissencephaly: Expanded imaging and clinical classification. Read more about Lissencephaly: Expanded imaging and clinical classification.
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Read more about Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate. Read more about Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review. Read more about Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Read more about The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Read more about Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. Read more about Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Read more about Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. Read more about Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.
