Results 161 to 170 of about 4,131 (223)

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis. [PDF]

open access: yesPrenat Diagn
Ghannad-Zadeh K   +7 more
europepmc   +1 more source

De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies. [PDF]

open access: yesHGG Adv
Aref-Eshghi E   +11 more
europepmc   +1 more source

Craniosynostosis in Saudi Arabia: A Retrospective Analysis of Subtype Patterns, Syndromic Risk, and Postoperative Outcomes. [PDF]

open access: yesPlast Reconstr Surg Glob Open
Alhusainan H   +7 more
europepmc   +1 more source

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]

open access: yesPrenat Diagn
Verebi C   +12 more
europepmc   +1 more source

Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental Disorder. [PDF]

open access: yesHum Mutat
Dagan SY   +8 more
europepmc   +1 more source

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