Results 151 to 160 of about 200,200 (400)

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

American 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, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Performance and feed intake of five beef suckler cow genotypes and pre-weaning growth of their progeny [PDF]

, 2008
peer-reviewedThe effect of beef suckler cow genotype on feed intake, performance, milk yield and on pre-weaning growth of their progeny was determined over four lactations.
Drennan, Michael J, McGee, Mark, Murphy, B.M., O'Mara, Frank P.   +3 more
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Lumbar Spine Location in Fluoroscopic Images by Evidence Gathering

, 2000
Low back pain (LBP) is a very common problem and lumbar segmental instability is one of the causes. It is important to investigate lumbar spine movement in order to understand instability better and as an aid to diagnosis.
Allen, Robert, Nixon, Mark S., Zheng, Yalin   +2 more
core  

MRI-based Surgical Planning for Lumbar Spinal Stenosis

, 2017
The most common reason for spinal surgery in elderly patients is lumbar spinal stenosis(LSS). For LSS, treatment decisions based on clinical and radiological information as well as personal experience of the surgeon shows large variance.
Andrew J. Haig, F Pedregosa, Gustav Andreisek, J Duchi, James N. Weinstein, Jon D. Lurie, Maureen C. Jensen, Michael C. Fu, RA Deyo, W W Downie, Y LeCun, Y. Ishimoto, Zareth N. Irwin   +12 more
core   +1 more source

T2 Vertebra

, 2020
National Cancer Institute
openalex   +1 more source

"Vanishing" of vertebra in a patient with sickle cell haemoglobinopathy. [PDF]

, 1990
J. O. Ozoh, Macaulay Onuigbo, Nwabundo Nwankwo, S.O. Ukabam, B C Umerah, Curran Emeruwa   +5 more
openalex   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Compressive load bearing and bone architecture of lumbar vertebrae in terms of sex and aging [PDF]

, 2004
Relation between vertebral compressive strength and trabecular architecture is presented in terms of aging and sex. Complex in vitro medical-engineering analysis of cadaver human lumbar L1 and L2 vertebrae was executed: densitometry, CT, MRI, mechanical ...
Fornet, B., Gálos, M., Kurutzné Kovács, Márta   +2 more
core  

Elimination of quotients in various localisations of premodels into models

, 2017
The contribution of this article is quadruple. It (1) unifies various schemes of premodels/models including situations such as presheaves/sheaves, sheaves/flabby sheaves, prespectra/$\Omega$-spectra, simplicial topological spaces/(complete) Segal spaces,
Tuyéras, Rémy
core   +2 more sources