Results 191 to 200 of about 99,315 (292)

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

American 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, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

A deep learning-based approach to automated rib fracture detection and CWIS classification. [PDF]

Int J Comput Assist Radiol Surg
Marting V, Borren N, van Diepen MR, van Lieshout EMM, Wijffels MME, van Walsum T.   +5 more
europepmc   +1 more source

GUY'S HOSPITAL. Fracture of the ribs and emphysema, with dislocation of the acromial end of the clavicle, from a squeeze between two railway buffers; recovery [PDF]

Thomas Bryant
openalex   +1 more source

Induction of Labor with the Modified De Ribes Bag [PDF]

, 1912
NULL AUTHOR_ID
openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Mental illness-related stigma and its associated factors among primary health care professionals in rural China. [PDF]

Front Psychiatry
Yang YY, Wang C, Cai J, Mu YF, Zhou L, Wang YZ, Zhang TM, Zhao XY, Li M, Luo W, Luo JJ, IreneWong YL, Yang LH, Ng SM, Ran MS.   +14 more
europepmc   +1 more source

PROJECTING ANEURISM OF THE ARCH OF THE AORTA BETWEEN THE SECOND RIB AND THE STERNUM; THE VALUE OF ICE APPLIED LOCALLY. [PDF]

A Adams
openalex   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

The distribution of lateral rib fractures: a validation and further development of the AO/OTA classification system in patients with fractures at the rib shaft. [PDF]

Eur J Trauma Emerg Surg
Groh J, Kern F, Krause J, Perl M, Schulz-Drost S.   +4 more
europepmc   +1 more source

How to choose rib resection in minimally invasive lateral approach thoracolumbar junction corpectomy: radiographic analysis and case illustrations. [PDF]

Front Surg
Liu F, Gu Z, Sun X, Meng X.
europepmc   +1 more source