关注
Yusra Alyafee , MSc, PhD
Yusra Alyafee , MSc, PhD
PI -team leader for NIPT, PGT-A, and PGT-M,MGRD,KAIMRC
在 ngha.med.sa 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay
MD Al-Sayed, H Al-Zaidan, AB Albakheet, H Hakami, R Kenana, ...
The American Journal of Human Genetics 93 (4), 721-726, 2013
1122013
Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia
YA Al-Yafee, LY Al-Ayadhi, SH Haq, AK El-Ansary
BMC neurology 11, 1-9, 2011
1062011
Next-generation sequencing-based pre-implantation genetic testing for aneuploidy (PGT-A): First report from Saudi Arabia
Y Alyafee, Q Alam, AA Tuwaijri, M Umair, S Haddad, M Alharbi, ...
Genes 12 (4), 461, 2021
422021
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
Y Alyafee, A Al Tuwaijri, M Umair, M Alharbi, S Haddad, M Ballow, ...
Frontiers in Genetics 13, 1047474, 2022
342022
Next generation sequencing based non-invasive prenatal testing (NIPT): First report from Saudi Arabia
Y Alyafee, A Al Tuwaijri, Q Alam, M Umair, S Haddad, M Alharbi, M Ballow, ...
Frontiers in Genetics 12, 630787, 2021
332021
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
EA Faqeih, M Al‐Owain, D Colak, R Kenana, Y Al‐Yafee, M Al‐Dosary, ...
American Journal of Medical Genetics Part A 164 (6), 1565-1570, 2014
322014
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
A Sheereen, M Alaamery, S Bawazeer, Y Al Yafee, S Massadeh, W Eyaid
Journal of Medical Genetics 54 (4), 236-240, 2017
312017
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ...
Clinical Genetics 98 (6), 555-561, 2020
302020
Preparation of anastrozole loaded PEG-PLA nanoparticles: evaluation of apoptotic response of breast cancer cell lines
YA Alyafee, M Alaamery, S Bawazeer, MS Almutairi, B Alghamdi, ...
International journal of nanomedicine, 199-208, 2018
252018
Synthesis of protein-coated biocompatible methotrexate-loaded PLA-PEG-PLA nanoparticles for breast cancer treatment
S Massadeh, M Alaamery, S Al-Qatanani, S Alarifi, S Bawazeer, Y Alyafee
Nano Reviews & Experiments 7 (1), 31996, 2016
232016
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
KM Alhamoudi, J Bhat, M Nashabat, M Alharbi, Y Alyafee, A Asiri, ...
Frontiers in pediatrics 8, 71, 2020
182020
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
F Al Mutairi, R Alkhalaf, A Alkhorayyef, F Alroqi, A Yusra, M Umair, F Nouf, ...
BMC Pulmonary Medicine 20, 1-5, 2020
172020
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
A Asiri, E Aloyouni, M Umair, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ...
Annals of Clinical and Translational Neurology 7 (6), 956-964, 2020
162020
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis …
M Umair, M Farooq Khan, M Aldrees, M Nashabat, KM Alhamoudi, M Bilal, ...
Frontiers in Cell and Developmental Biology 9, 736960, 2021
122021
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect …
A Asiri, D Alwadaani, M Umair, KM Alhamoudi, MH Almuhanna, A Nasir, ...
Genes 12 (2), 294, 2021
112021
Identification of the TTC26 splice variant in a novel complex ciliopathy syndrome with biliary, renal, neurological, and skeletal manifestations
M Alfadhel, M Umair, B Almuzzaini, A Asiri, A Al Tuwaijri, K Alhamoudi, ...
Molecular Syndromology 12 (3), 133-140, 2021
102021
Studies on the effect of gold nanoparticles on oxidative stress and antioxidants defense indices in various rat tissues
NJ Siddiqi, MAK Abdelhalim, YA AlYafee, AS Alhomida
African Journal of Pharmacy and Pharmacology 6 (47), 3246-51, 2012
102012
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
A Al Tuwaijri, Y Alyafee, M Alharbi, M Ballow, M Aldrees, Q Alam, ...
Molecular genetics & genomic medicine 10 (8), e1969, 2022
82022
Non-invasive prenatal testing for autosomal recessive disorders: a new promising approach. Front Genet. 2022; 13: 1047474
Y Alyafee, A Al Tuwaijri, M Umair, M Alharbi, S Haddad, M Ballow, ...
62022
Biomarker discovery in neurological diseases: a metabolomic approach
A El-Ansary, N Al-Afaleg, Y Al-Yafaee
Open Access Journal of Clinical Trials, 27-41, 2009
62009
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