Results 51 to 60 of about 1,238,800 (147)

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Molecular Genetics and Metabolism Reports
Background: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3 on chromosome 10p14.
Bo Huang, Shiwei Li, Yun Chai, Yu Fan, Xin Li, Yue Liu, Yunhong Fu, Xixi Song, Jingqiu Cui   +8 more
doaj   +1 more source

Multi‐Omics Signatures of Organ Clocks in Biological Aging and Disease: A Conceptual Framework for Organ‐Specific Aging Clocks

Aging Cell, Volume 25, Issue 5, May 2026.
Organ‐specific aging clocks integrating genomics, epigenomics, transcriptomics, proteomics, and metabolomics offer a more accurate assessment of biological aging than single‐omics approaches. This review proposes a multi‐omics framework emphasizing tissue data, longitudinal study designs, and clinically meaningful training outcomes to advance the ...
Maria Vasileiou, Gabor Liposits, Bara Barakat, Nam P. Nguyen   +3 more
wiley   +1 more source

AL-GHITANI’S ZAYNI BARAKAT: HISTORY AS NARRATIVE [PDF]

, 2015
The study tackles the historiographic metafictional elements of alGhitani’s Zayni Barakat. Even though historiographic metafiction, like Postmodernism at large, is a Western concept and even though al-Ghitani’s novel is Arabic-Islamic in many of its ...
Alkhadra, Wafa A.
core  

The homalg project

, 2012
Mohamed Barakat, Markus Lange-Hegermann (TU Kaiserslautern, RWTH-Aachen) barakat@mathematik.uni-kl.de markus.lange.hegermann@rwth-aachen.de filtration, etc. We use these properties in applications to algebraic system theory, an ongoing work with Q UADRAT
Barakat, Mohamed, Lange-Hegermann, Markus   +1 more
core   +1 more source

The impact of educational interventions on HIV/AIDS prevention in Iranian adolescents: a systematic review study

HIV & AIDS Review. International Journal of HIV-Related Problems
Introduction Human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) is one of the most serious health problems and the deadliest infectious disease of the present century. Lack of awareness of HIV in adolescence puts this population
Hedyeh Riazi, Zhila Mohammad Rezayi, Behjat Khorsandi, Zohreh Keshavarz, Morad Ali Zareipour   +4 more
doaj   +1 more source

The Generals Tea Party

, 1991
A Major Theatre Production performed on March 12-15, [1991] at 6:30 p.m., March 16 & 17 at 7:30 p.m.
Beirut University College (BUC)
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

Egyptian Journal of Medical Human Genetics
Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant genetic disorder manifesting as a result of haploinsufficiency of the GATA3 gene.
Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu   +4 more
doaj   +1 more source

Ameliorative Effects of Lycopene and L‐Carnitine on CCl4‐Induced Liver Fibrosis Rat Model

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Rats with CCl4‐induced liver fibrosis may benefit from the synergistic antifibrotic effects of lycopene (30 mg/kg) and L‐carnitine (200 mg/kg). Treatment improves liver function tests and lowers oxidative stress, hepatic fibrosis, LDH levels, and body weight loss.
Adeel Shahid, Somia Shehzadi, Moazzam Salamat, Sahar Shafiq, Zaid Talal Abdulqader Ali   +4 more
wiley   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source