Results 181 to 190 of about 54,157 (345)

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

Photocaged Oxytocin and Vasopressin Probes to Decipher Neuropeptide Signalling With High Spatiotemporal Resolution

Angewandte Chemie International Edition, EarlyView.
Novel and biocompatible photoactivatable oxytocin and vasopressin probes, utilising state‐of‐the‐art photocages, remain inactive in the dark. Light exposure facilitates rapid spatiotemporal receptor activation and phospholipase C (PLC)‐mediated downstream signalling. Figure created in https://BioRender.com.
Konstantin Raabe, Predrag Kalaba, Xuan Ling Hilary Yong, Greta Crudeli, Sarah Melzer, Erik Keimpema, Victor Anggono, Markus Muttenthaler   +7 more
wiley   +1 more source

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study

The Application of Clinical Genetics
Lamia K Alshamlani,1 Dana S Alsulaim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi,1– 3 ...
Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M   +14 more
doaj  

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population. [PDF]

Invest Ophthalmol Vis Sci
Shalom S, Gradstein L, Pras E, Valensi J, Birk OS, Blumenfeld A, Eilat A, Macarov M, Poleg T, Cremers FPM, Roosing S, Panneman DM, Hollander N, Goldenberg-Cohen N, Yahalom C, Banin E, Ben-Yosef T, Sharon D.   +17 more
europepmc   +1 more source

The economics of consanguineous marriages [PDF]

The institution of consanguineous marriage-a marriage contracted between close biological relatives-has been a basic building block of many societies in different parts of the world. This paper argues that the practice of consanguinity is closely related
Do, Quy-Toan, Iyer, Sriya, Joshi, Shareen   +2 more
core  

A study relating fetal hydrocephalus with family history and consanguinity in Pakistani population.

, 2023
Ambreen Surti, Ambreen Usmani, Quratulain Javaid   +2 more
openalex   +2 more sources

Prevalence of chromosomal abnormalities and polymorphisms in 4,672 infertile patients undergoing assisted reproductive techniques in the United Arab Emirates population. [PDF]

Front Reprod Health
Upadhyay D, Varghese MM, Anandt S, Albuz F, Almekosh R, Peramo B.   +5 more
europepmc   +1 more source

A case report of congenital anterior urethral diverticulum: Is parental consanguinity a possible risk factor? [PDF]

Urol Case Rep
Alqahtani BN, Banihani OI.
europepmc   +1 more source

CONSANGUINITY AND GENETIC RISK FACTORS ASSOCIATED WITH CONGENITAL MALFORMATIONS IN A PAKISTANI BIRTH COHORT

Shabana Nazeer,Misbah Rehman,Asima Naseem,Dr. Farzeen Fatima,Dr. Ghulam Abbas Khan,Muhammad Sajid,Dr. Sajid Mahmood,Dr. Mian Jahan Zaib Rasheed
openalex   +1 more source

Consanguinity and susceptibility to infectious diseases in humans

, 2009
Emily Lyons, A J Frodsham, Lyna Zhang, Adrian V. S. Hill, William Amos   +4 more
openalex   +1 more source