Results 241 to 250 of about 176,265 (348)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Applicability of the Bulge Equations in plane strain bulge experiments

open access: yesEPJ Web of Conferences, 2010
Geers M.G.D.   +2 more
doaj   +1 more source

AN ASYMMETRIC STREAMING MOTION IN THE GALACTIC BULGE X-SHAPED STRUCTURE REVEALED BY OGLE-III PROPER MOTIONS [PDF]

open access: bronze, 2013
Radosław Poleski   +17 more
openalex   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Missed Abdominal Wall Hernias. [PDF]

open access: yesAnn Surg Open
Nash AL, Pappas TN, Greenberg JA.
europepmc   +1 more source

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