Results 131 to 140 of about 216,540 (363)

The effect of noradrenaline infusions on the blood flow through the human forearm

, 1954
H. Barcroft, Peter Gaskell, John T. Shepherd, R. F. Whelan   +3 more
openalex   +2 more sources

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

A CASE OF CONGENITAL MALFORMATION OF THE LEFT FOREARM WITH ABSENCE OF THE HAND [PDF]

, 1919
J. J. Kurlander
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Hyperaemia following arterial occlusion or exercise in the warm and cold human forearm

, 1959
D. R. Coles, Keith Cooper
openalex   +2 more sources

FRACTURE OF THE FOREARM COMPLICATED WITH DISLOCATION. [PDF]

, 1896
Emily Griswold
openalex   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Temperature and blood flow in the human forearm

, 1946
H. Barcroft, O. G. Edholm
openalex   +2 more sources

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Three Cases of Paralysis of Muscles of the Hand and Forearm [PDF]

, 1902
Walter Broadbent
openalex   +1 more source