Results 151 to 160 of about 546,184 (362)

Radiographic evaluation of the urinary tract following urinary diversion to an ileal bladder [PDF]

open access: bronze, 1959
James R. Jude   +2 more
openalex   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Level of diagnostic agreement in musculoskeletal shoulder diagnosis between remote and face‐to‐face consultations: A retrospective service evaluation

open access: yesHealth Science Reports
Background and Aims To determine the level of diagnostic agreement between remote and face‐to‐face consultation in assessing shoulder complaints. Methods A retrospective service evaluation with three groups of patient data; those assessed only face‐to ...
Louise Cockburn, Gill Baer, Jenna Rhodes
doaj   +1 more source

Compliance with radiation protection among radiographers in Eswatini public health facilities

open access: yesHealth SA Gesondheid: Journal of Interdisciplinary Health Sciences
Background: The consequence of non-compliance with patient radiation safety standards increases unnecessary radiation exposure with high chances of harmful biological effects.
Amelia Shungube, Thandokuhle E. Khoza
doaj   +1 more source

3D virtual reality simulation in radiography education: The students' experience

open access: yesRadiography, 2020
M. O’Connor   +5 more
semanticscholar   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti   +12 more
wiley   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

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