NARA Discovery
NARA Subscribed Scholarly Literature Discovery
Boolean search: climate AND coral · microplastic OR nanoplastic · plastic NOT freshwater · "marine heatwave"
Advanced Search
Topic searches article titles and abstracts. Starts a new search; publisher and year refine it.
Searches article titles and abstracts.
Accepts bare DOI, doi: prefix, or a doi.org URL.
Complete publisher name. Publisher imprints are grouped under their main publisher where applicable.
Exact match by full journal title or ISSN.
–
Refine Results Clear Filters
Collection
NARA Subscribed7
Publisher
Springer Nature7
Journal
Human Genetics7
Publication Year
20231
20221
20181
20172
20161
20151
Brahim Tabarki results 7 · Newest (Page 1/1, per page 25)
Export CSV Export RIS Export current results · up to 5,000 records
Author: Brahim Tabarki ×Clear All Filters
Search Results
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 3 · Springer
Daphne J. Smits; Jordy Dekker; Rachel Schot; Brahim Tabarki; Amal Alhashem; Jeroen A. A. Demmers; Dick H. W. Dekkers; Antonio Romito; Peter J. van der Spek; Tjakko J. van Ham; Aida M. Bertoli-Avella; Grazia M. S. Mancini
CLEC16A is a membrane-associated C-type lectin protein that functions as a E3-ubiquitin ligase. CLEC16A regulates autophagy and mitophagy, and reportedly localizes to late endosomes. GWAS studies have associated CLEC16A SNPs to various auto-immune and neurological disorders, including multiple sclerosis and Parkinson disease. Studies in mouse models imply a role for CLEC16A in neurodegeneration. We identified bi-allelic CLEC16...
View Details View Full Text
Mitochondrial “dysmorphology” in variant classificationNARA Subscribed
Human Genetics · 2022 · Vol. 141 · Issue 1 · Springer
Hanan E. Shamseldin; Amal Alhashem; Brahim Tabarki; Firdous Abdulwahab; Mais Hashem; Rachid Sougrat; Fowzan S. Alkuraya
View Details View Full Text
Correction to: Expanding the genetic heterogeneity of intellectual disabilityNARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 1 · Springer
Shams Anazi; Sateesh Maddirevula; Vincenzo Salpietro; Yasmine T. Asi; Saud Alsahli; Amal Alhashem; Hanan E. Shamseldin; Fatema AlZahrani; Nisha Patel; Niema Ibrahim; Firdous M. Abdulwahab; Mais Hashem; Nadia Alhashmi; Fathiya Al Murshedi; Adila Al Kindy; Ahmad Alshaer; Ahmed Rumayyan; Saeed Al Tala; Wesam Kurdi; Abdulaziz Alsaman; Ali Alasmari; Selina Banu; Tipu Sultan; Mohammed M. Saleh; Hisham Alkuraya; Mustafa A. Salih; Hesham Aldhalaan; Tawfeg Ben-Omran; Fatima Al Musafri; Rehab Ali; Jehan Suleiman; Brahim Tabarki; Ayman W. El-Hattab; Caleb Bupp; Majid Alfadhel; Nada Al Tassan; Dorota Monies; Stefan T. Arold; Mohamed Abouelhoda; Tammaryn Lashley; Henry Houlden; Eissa Faqeih; Fowzan S. Alkuraya
View Details View Full Text
Expanding the genetic heterogeneity of intellectual disabilityNARA Subscribed
Human Genetics · 2017 · Vol. 136 · Issue 11-12 · Springer
Shams Anazi; Sateesh Maddirevula; Vincenzo Salpietro; Yasmine T. Asi; Saud Alsahli; Amal Alhashem; Hanan E. Shamseldin; Fatema AlZahrani; Nisha Patel; Niema Ibrahim; Firdous M. Abdulwahab; Mais Hashem; Nadia Alhashmi; Fathiya Al Murshedi; Adila Al Kindy; Ahmad Alshaer; Ahmed Rumayyan; Saeed Al Tala; Wesam Kurdi; Abdulaziz Alsaman; Ali Alasmari; Selina Banu; Tipu Sultan; Mohammed M. Saleh; Hisham Alkuraya; Mustafa A. Salih; Hesham Aldhalaan; Tawfeg Ben-Omran; Fatima Al Musafri; Rehab Ali; Jehan Suleiman; Brahim Tabarki; Ayman W. El-Hattab; Caleb Bupp; Majid Alfadhel; Nada Al Tassan; Dorota Monies; Stefan T. Arold; Mohamed Abouelhoda; Tammaryn Lashley; Henry Houlden; Eissa Faqeih; Fowzan S. Alkuraya
View Details View Full Text
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesNARA Subscribed
Human Genetics · 2017 · Vol. 136 · Issue 8 · Springer
Dorota Monies; Mohamed Abouelhoda; Moeenaldeen AlSayed; Zuhair Alhassnan; Maha Alotaibi; Husam Kayyali; Mohammed Al-Owain; Ayaz Shah; Zuhair Rahbeeni; Mohammad A. Al-Muhaizea; Hamad I. Alzaidan; Edward Cupler; Saeed Bohlega; Eissa Faqeih; Maha Faden; Banan Alyounes; Dyala Jaroudi; Ewa Goljan; Hadeel Elbardisy; Asma Akilan; Renad Albar; Hesham Aldhalaan; Shamshad Gulab; Aziza Chedrawi; Bandar K Al Saud; Wesam Kurdi; Nawal Makhseed; Tahani Alqasim; Heba Y. El Khashab; Hamoud Al-Mousa; Amal Alhashem; Imaduddin Kanaan; Talal Algoufi; Khalid Alsaleem; Talal A. Basha; Fathiya Al-Murshedi; Sameena Khan; Adila Al-Kindy; Maha Alnemer; Sami Al-Hajjar; Suad Alyamani; Hasan Aldhekri; Ali Al-Mehaidib; Rand Arnaout; Omar Dabbagh; Mohammad Shagrani; Dieter Broering; Maha Tulbah; Amal Alqassmi; Maisoon Almugbel; Mohammed AlQuaiz; Abdulaziz Alsaman; Khalid Al-Thihli; Raashda A. Sulaiman; Wajeeh Al-Dekhail; Abeer Alsaegh; Fahad A. Bashiri; Alya Qari; Suzan Alhomadi; Hisham Alkuraya; Mohammed Alsebayel; Muddathir H Hamad; Laszlo Szonyi; Faisal Abaalkhail; Sulaiman M. Al-Mayouf; Hamad Almojalli; Khalid S. Alqadi; Hussien Elsiesy; Taghreed M. Shuaib; Mohammed Zain Seidahmed; Ibraheem Abosoudah; Hana Akleh; Abdulaziz AlGhonaium; Turki M. Alkharfy; Fuad Al Mutairi; Wafa Eyaid; Abdullah Alshanbary; Farrukh R. Sheikh; Fahad I. Alsohaibani; Abdullah Alsonbul; Saeed Al Tala; Soher Balkhy; Randa Bassiouni; Ahmed S. Alenizi; Maged H. Hussein; Saeed Hassan; Mohamed Khalil; Brahim Tabarki; Saad Alshahwan; Amira Oshi; Yasser Sabr; Saad Alsaadoun; Mustafa A. Salih; Sarar Mohamed; Habiba Sultana; Abdullah Tamim; Moayad El-Haj; Saif Alshahrani; Dalal K. Bubshait; Majid Alfadhel; Tariq Faquih; Mohamed El-Kalioby; Shazia Subhani; Zeeshan Shah; Nabil Moghrabi; Brian F. Meyer; Fowzan S. Alkuraya
View Details View Full Text
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizuresNARA Subscribed
Human Genetics · 2016 · Vol. 135 · Issue 11 · Springer
Brahim Tabarki; Nabil AlMajhad; Amal AlHashem; Ranad Shaheen; Fowzan S. Alkuraya
View Details View Full Text
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?NARA Subscribed
Human Genetics · 2015 · Vol. 134 · Issue 1 · Springer
Marta Romani; Francesca Mancini; Alessia Micalizzi; Andrea Poretti; Elide Miccinilli; Patrizia Accorsi; Emanuela Avola; Enrico Bertini; Renato Borgatti; Romina Romaniello; Serdar Ceylaner; Giangennaro Coppola; Stefano D’Arrigo; Lucio Giordano; Andreas R. Janecke; Mario Lituania; Kathrin Ludwig; Loreto Martorell; Tommaso Mazza; Sylvie Odent; Lorenzo Pinelli; Pilar Poo; Margherita Santucci; Sabrina Signorini; Alessandro Simonati; Ronen Spiegel; Franco Stanzial; Maja Steinlin; Brahim Tabarki; Nicole I. Wolf; Federica Zibordi; Eugen Boltshauser; Enza Maria Valente
View Details View Full Text