Results 31 to 40 of about 7,415 (251)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Raising the awareness of privacy on the use of internet technology among adolescents

Abdimas: Jurnal Pengabdian Masyarakat Universitas Merdeka Malang, 2021
Sustainable Development Goals (SDGs) is the global agreement agreed by United Nation member countries. The agreement aims to assure fair and equitable development throughout the world. SDGs consist of 17 goals, which one of the goals is about information,
Muhammad Yusuf Abror, Miftha Pratiwi, Muchammad Yustian Yusa, Farisha Sestri Musdalifah, Krisna Murti   +4 more
doaj   +1 more source

Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review

Molecular Genetics &Genomic Medicine, Volume 10, Issue 11, November 2022., 2022
Abstract Background Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene are the most common cause of congenital SNHL, with >100 variants reported.
Omnia Elsayed, Aisha Al‐Shamsi
wiley   +1 more source

Konsep Khalifatullah Terhadap Pengembangan Kepemimpinan Pendidikan Islam Persfektif M. Quraish Shihab dan Al-Gazali

, 2021
Tujuan Penelitian ini adalah untuk mengetahui Bagaimana Konsep khalifatullah dalam Perspektif M. Quraish Shihab dan Al-Ghazali, serta Persamaan dan Perbedaan Konsep Khalifah M. Quraish Shihab dan perspektif Al-Ghazali.
Nikmatul Musayadah, Devy Habibi Muhammad, Ari Susandi   +2 more
semanticscholar   +1 more source

Qatar genome: Insights on genomics from the Middle East

Human Mutation, Volume 43, Issue 4, Page 499-510, April 2022., 2022
Abstract Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we describe insights from Phase 1 of the Qatar Genome Program with whole genome sequenced 6047 individuals from Qatar.
Hamdi Mbarek, Geethanjali Devadoss Gandhi, Senthil Selvaraj, Wadha Al‐Muftah, Radja Badji, Yasser Al‐Sarraj, Chadi Saad, Dima Darwish, Muhammad Alvi, Tasnim Fadl, Heba Yasin, Fatima Alkuwari, Rozaimi Razali, Waleed Aamer, Fatemeh Abbaszadeh, Ikhlak Ahmed, Younes Mokrab, Karsten Suhre, Omar Albagha, Khalid Fakhro, Ramin Badii, Said I. Ismail, Asma Althani, Qatar Genome Program Research Consortium   +23 more
wiley   +1 more source

KONSEP KEBAHAGIAAN MENURUT AL-GHAZALI DALAM KIMIYA AS-SA’ADAH DAN RELEVANSINYA TERHADAP RUMAH TANGGA

El-Fikr, 2021
In the course of the household not all can feel happiness. Of course there are several factors that result in households not being able to achieve happiness, the cause of unhappiness may be due to economic factors, incompatibility between partners, not ...
Nadia Safitri, Idrus Al-Kaf
doaj   +1 more source

Voices in practice: Exploring genetic counseling ethical, cultural, social, and religious dynamics in the UAE. [PDF]

J Genet Couns
Abstract Genetic counseling is expanding globally, yet remains underexplored in Middle Eastern contexts. In the United Arab Emirates (UAE), rapid biomedical advancements intersect with traditional sociocultural and religious norms, presenting unique contexts for clinical practice.
Almarri HJ, Koodakkadavath S, Rahma AT, Al Saffar M.   +3 more
europepmc   +2 more sources

Genotype–phenotype correlates in Joubert syndrome: A review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 1, Page 72-88, March 2022., 2022
Abstract Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement. Over 40 causative genes have been identified to date, explaining up to 94% of cases. To date, gene‐phenotype correlates have been delineated only
Simone Gana, Valentina Serpieri, Enza Maria Valente   +2 more
wiley   +1 more source

IBN RUSYD (Kritik Terhadap al-Gazali dan Pengaruhnya di Eropa)

, 2021
This article aims to explore the treasures of Ibn Rushd's philosophy of rationality versus Al-Gazali's fundamental religious thought related to 3 (three) metaphysical problems, namely: (1). Qadimnya (eternal) nature, (2) God does not need to take care of
Gasim Yamani
semanticscholar   +1 more source

New Industrial Master Plan 2030: Prioritise Common Diseases — Ahmad Mahfuz Gazali [PDF]

, 2023
It is imperative to encourage more companies to manufacture minimally invasive devices, point-of-care products, and medical devices to support the ...
Ahmad Mahfuz, Gazali
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