Results 271 to 280 of about 102,508 (345)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Expression of free fatty acid receptors in the liver of periparturient dairy cows supplemented with essential fatty acids and conjugated linoleic acid. [PDF]

JDS Commun
Michelotti TC, Imbert A, Veshkini A, Durand G, Hammon HM, Bonnet M.   +5 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

When physiology fails: Endocrine and clinical perspectives on complicated pregnancy and parturition outcomes in dogs. [PDF]

J Reprod Dev
Balogh O.
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

The sphingosine-1-phosphate pathway is differentially activated in human gestational tissues. [PDF]

J Endocr Soc
Mbadhi MN, Fujiwara H, Gill R, Mitchum KT, Lin ZC, Raghuraman N, Frolova AI.   +6 more
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Classification of Goat Vocalization via Lightweight Machine Learning and High-Dimensional Acoustic Features. [PDF]

Animals (Basel)
Méndez DA, Calvet Sanz S.
europepmc   +1 more source

Evaluating the efficacy of injectable antioxidant AD3EC on oxidative stress biomarkers in Raini cashmere goats. [PDF]

BMC Vet Res
Saeedian A, Mazrouei Sebdani M, Shamsaddini Bafti M, Kargar N.   +3 more
europepmc   +1 more source

Morpho-functional uterine and placental dynamics during establishment and maintenance of canine pregnancy, from early trophoblast invasion to parturition. [PDF]

J Reprod Dev
Kowalewski MP.
europepmc   +1 more source