Results 211 to 220 of about 398,375 (367)

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

Overlapping Reflux Symptoms in Functional Dyspepsia Are Mostly Unrelated to Gastroesophageal Reflux. [PDF]

J Neurogastroenterol Motil
Chen S, Jia X, Zhuang Q, Hou X, Siah KTH, Zhang M, Chen F, Tan N, Hu J, Xiao Y.   +9 more
europepmc   +1 more source

Reflux and hernia. [PDF]

, 1971
J. A. W. Bingham
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American 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, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Globus: Its True Relationship to Acid Reflux? Opposing Patterns of Location-specific Basal Pressure Compared to Gastroesophageal Reflux Disease. [PDF]

J Neurogastroenterol Motil
Cha B.
europepmc   +1 more source

Development of the First Tritiated Tetrazine: Facilitating Tritiation of Proteins

ChemBioChem, Volume 23, Issue 23, December 5, 2022., 2022
A tritiated tetrazine based on a phenyl/pyridyl core structure was successfully radiolabeled with NaBT4 by reducing an aldehyde moiety. The synthon was effectively employed to label an antibody in vitro with pretargeted autoradiography. Abstract Tetrazine (Tz)–trans‐cyclooctene (TCO) ligation is an ultra‐fast and highly selective reaction and it is ...
Natasha Shalina Radjani Bidesi, Umberto Maria Battisti, Sara Lopes van de Broek, Vladimir Shalgunov, Anne‐Mette Dall, Jesper Bøggild Kristensen, Dag Sehlin, Stina Syvänen, Gitte Moos Knudsen, Matthias Manfred Herth   +9 more
wiley   +1 more source

Efficacy and Safety of Fexuprazan Versus Esomeprazole for Gastroesophageal Reflux Disease-Related Chronic Cough: A Randomized, Double-Blind, Active-Controlled Exploratory Trial. [PDF]

Lung
Kang N, Kang MG, Lee SE, Kang SY, Jo EJ, Lee JH, Kim SH, Bahn JW, Lee BJ, Song WJ.   +9 more
europepmc   +1 more source

Copper‐Catalyzed Synthesis of C‐2 Substituted Indolin‐3‐Ones and Indolin‐3‐One [4+2] Cycloadducts Through Azide‐Tethered Iodonium Ylides

Asian Journal of Organic Chemistry, EarlyView.
Azide‐tethered iodonium ylides under copper catalysis generate metallocarbenes that undergo intramolecular trapping by the azide moiety and generate a reactive C‐acylimine, effectively coupling two nucleophilic centers. This intermediate can be trapped by a wide range of nucleophiles or 1,3‐dienes producing complex indolin‐3‐ones and ...
Israel Najar Guerrero, Zinah Al‐Khateeb, F. G. West   +2 more
wiley   +1 more source

Predictive factors for the success of subureteric injection in renal transplant patients with vesicoureteral reflux. [PDF]

BMC Urol
Varol AT, Caylan AE, Uçar M.
europepmc   +1 more source

Gastroesophageal reflux and hiatal hernia

, 1967
Harold C. Urschel, Donald L. Paulson
openalex   +1 more source