Results 251 to 260 of about 281,176 (314)

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Melatonin Attenuates Androgen-Induced Visceral Adiposity in an Experimental Polycystic Ovary Syndrome Model. [PDF]

Cureus
Tirso N, Kiseljakovic E, Fajkić A, Custovic S, Sahinovic M, Lepara O.   +5 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Genome-Wide Association Study Identifies Candidate Genes for Body Size Traits in Wanyue Black Pigs. [PDF]

Animals (Basel)
Ye H, Li W, Tian F, Wang Q, Ma Z, Guan J, Ding Y, Zheng X, Yin Z, Zhang X.   +9 more
europepmc   +1 more source

Capsulotomy morphology in cataract surgery: comparison of five femtosecond lasers. [PDF]

J Cataract Refract Surg
Joia IA, Dürmüller JM, Halfter W, Meyer CH, Henrich PB.   +4 more
europepmc   +1 more source

Assessment of Head Circumference among Pre-school Children of Midnapore Town, West Bengal using WHO (2007) Recommended Cut-off Points.

, 2012
Soumyajit Maiti, Kazi Monjur Ali, Debidas Ghosh, Shyamapada Paul   +3 more
openalex   +1 more source

Effect of neuromuscular electrical stimulation on diastasis recti abdominis. [PDF]

Sci Rep
Fang J, Weng Y, Lin Y, Wu T, Wang Y, Lin L, Lin J.   +6 more
europepmc   +1 more source

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source