Results 151 to 160 of about 402,810 (343)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

ON CERTAIN OBSCURE SPRAINS OF THE ELBOW OCCURRING IN YOUNG CHILDREN

, 1885
J. Hutchinson
openalex   +2 more sources

SOME POINTS IN INJURIES TO THE ELBOW-JOINT. [PDF]

, 1911
R. Lane Joynt
openalex   +1 more source

Elbow Arthroscopy for the Stiff Elbow [PDF]

Journal of the Korean Orthopaedic Association, 1994
Sung Jae Kim, Kwang Min Ko
openaire   +1 more source

Advanced action manipulator system (ADAMS) [PDF]

, 1973
Manipulator offers improved performance over other models in its category. It features larger force and reach capabilities and is readily convertible for underwater use. Unique kinematic arrangement provides extremely large working envelope.
Blaise, H. T., Dane, D. H., Kugath, D. A.   +2 more
core   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Single-Stage Arthroscopic Minced Cartilage Implantation for Focal Cartilage Defects of the Glenoid Including Glenolabral Articular Disruption Lesions: A Technical Note

Arthroscopy Techniques
Anterior shoulder dislocations often are associated with cartilage defects of the anterior glenoid (glenolabral articular disruption, or GLAD lesions).
Alexander Pieringer, Anh Do, Florian Freislederer, M.D., Markus Scheibel, M.D.   +3 more
doaj  

A SIMPLE SPLINT FOR FLAIL ELBOW [PDF]

, 1913
Ronald B. Parker
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source