المؤلفون: Moustafa S. Magliyah, Faisal Almarek, Sawsan R. Nowilaty, Lama Al-Abdi, Fowzan S. Alkuraya, Mohammed Alowain, Patrik Schatz, Talal Alfaadhel, Arif O. Khan, Sulaiman M. Alsulaiman

المصدر: Retina. 43:498-505

مصطلحات موضوعية: Ophthalmology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c1da3b43c94d6d4176a93beae6de089e
https://doi.org/10.1097/iae.0000000000003691

المؤلفون: Lama Al-Abdi, Mohamed H Al-Hamed, Rana Helaby, Faiqa Imtiaz, Shatha Alrashseed, Ahood Alsulaiman, Fowzan S. Alkuraya

المصدر: Genetics in Medicine. 23:2448-2454

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pregnancy, First Cousin, business.industry, Pedigree chart, Disease, medicine.disease, Human genetics, Residual risk, Second cousin, Medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af105a83b33302c7c523e55decef2b8d
https://doi.org/10.1038/s41436-021-01289-5

المؤلفون: Anuradha Ganesh, Fathiya Al Murshedi, Niema Ibrahim, Lama Al-Abdi, Rana Helaby, Alaa Elmanzalawy, Fowzan S. Alkuraya, Nisha Patel, Asila Al Habsi

المصدر: Human Genetics. 139:615-622

مصطلحات موضوعية: Male, Pelizaeus-Merzbacher Disease, Sequence Homology, Biology, Severity of Illness Index, White matter, 03 medical and health sciences, Myelin, 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, Exome, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Multiple sclerosis, Homozygote, 030305 genetics & heredity, Leukodystrophy, Infant, Prognosis, medicine.disease, Null allele, Phenotype, Pedigree, medicine.anatomical_structure, Child, Preschool, Mutation, Immunology, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6487baf17e9e06d5cdc8c0e0be4c30a
https://doi.org/10.1007/s00439-020-02144-4

المؤلفون: Isaiah K Mensah, Christopher J. Petell, Sarah McGovern, Lama Al-Abdi, Allison B Norvil, Humaira Gowher, Ming He

المصدر: NAR Cancer

مصطلحات موضوعية: AcademicSubjects/SCI01140, Methyltransferase, AcademicSubjects/SCI01060, AcademicSubjects/SCI00030, Cancer, Biology, medicine.disease, AcademicSubjects/SCI01180, chemistry.chemical_compound, chemistry, Cancer research, medicine, AcademicSubjects/SCI00980, Survey and Summary, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f462d7061627c1a087cf9df6e9aa7cd
http://europepmc.org/articles/PMC8634572

المؤلفون: Sadik Oner, Betul Pir, Felix Hoffmann, Betul Altunkaynak, Karsten Boldt, Xiaoyu Peng, Fowzan S. Alkuraya, Sebiha Cevik, Ying Cao, Asli Karaman, Lama Al-Abdi, Marius Ueffing, Franziska Woerz, Ferhan Yenisert, Ranad Shaheen, Miray Cakiroglu, Mustafa S. Pir, Atiyye Zorluer, Oktay I. Kaplan, Tina Beyer

مصطلحات موضوعية: Ciliopathy, BBSome, GTPase-activating protein, biology, Polydactyly, Cilium, medicine, medicine.disease, biology.organism_classification, Zebrafish, Ciliopathies, Phenotype, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::63a6f3e4894f80172c7bc15dca3f1880
https://doi.org/10.21203/rs.3.rs-622797/v1

المؤلفون: Yosra Mehrjoo, Philippe M. Campeau, Lama Al Abdi, Abdullah Aldowaish, Omar Abouyousef, Fowzan S. Alkuraya, Marta Codina‐Solà, Anna M. Cueto‐González, Hugo Wurtele

الاتاحة: http://dx.doi.org/10.1111/cge.14545/v2/response1

المؤلفون: Fahad B Albadr, Fowzan S. Alkuraya, Lama Al-Abdi, Arif O. Khan, Nisha Patel, Rana Helaby, Firdous Abdulwahab, Mais Hashem

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, genetic structures, QH426-470, 030105 genetics & heredity, Gene mutation, Collagen Type XI, Eye, Stickler syndrome, Iridodonesis, COL9A1, LDL-Receptor Related Protein-Associated Protein, Child, Connective Tissue Diseases, Genetics (clinical), medicine.diagnostic_test, Autosomal dominant trait, Retinal detachment, Hypoplasia, Phenotype, cataract, Child, Preschool, Female, Original Article, medicine.medical_specialty, Heterozygote, COL2A1, Hearing Loss, Sensorineural, Aphakia, Collagen Type IX, COL11A1, vitreous, 03 medical and health sciences, Ophthalmology, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Collagen Type II, Genetic testing, business.industry, Arthritis, Retinal Detachment, Original Articles, medicine.disease, eye diseases, 030104 developmental biology, Mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee15c412557f5158f05374e8a79964ae
https://pubmed.ncbi.nlm.nih.gov/33951325

المؤلفون: Alison Kraus, Arif O. Khan, Fanny Thuriot, Fowzan S. Alkuraya, Fabiola Ceroni, Wayne S. Sossin, Nicola K. Ragge, Rana Helaby, Carole A. Farah, Sébastien Lévesque, Richard J. Holt, Congyao Zha, Lama Al-Abdi

المساهمون: Zha C., Farah C.A., Holt R.J., Ceroni F., Al-Abdi L., Thuriot F., Khan A.O., Helaby R., Levesque S., Alkuraya F.S., Kraus A., Ragge N.K., Sossin W.S.

المصدر: Hum Mol Genet

مصطلحات موضوعية: Male, Deafness, Biology, Nervous System Malformations, Compound heterozygosity, Microphthalmia, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, developmental eye defects, Animals, Humans, Genetic Predisposition to Disease, Eye Abnormalities, Molecular Biology, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, Coloboma, Anophthalmia, Calpain, Heterozygote advantage, General Medicine, medicine.disease, CAPN15, Phenotype, eye diseases, Pedigree, microphthalmia, Neurodevelopmental Disorders, biology.protein, coloboma, Eye disorder, Female, General Article, sense organs, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de5ffeada4647234ff5d08344e7f2d5
https://hdl.handle.net/11585/808292

المؤلفون: Moeen Al-Sayed, Peter E.M. Taschner, Lihadh Al-Gazali, May Alrashed, Arif O. Khan, Amal Alhashem, Zuhair Rahbeeni, Shamsa Al-Anazi, Zuhair N. Al-Hassnan, Selwa A.F. Al-Hazzaa, Jawahir Y. Mohamed, Mais Hashem, Mushari Alamr, Eissa Faqeih, Mugtaba O Sirelkhatim, Lama Al-Abdi, Ahmad Al-Salem, Hisham Alkuraya, Sami Wali, Leen Abu-Safieh, Basim Alkuraya, Fowzan S. Alkuraya, Ameen Softah

المصدر: European Journal of Human Genetics, 20(4), 420-427

مصطلحات موضوعية: Male, epistasis, congenital, hereditary, and neonatal diseases and abnormalities, Cell Cycle Proteins, BBS9, Biology, Article, Cohort Studies, Bardet–Biedl syndrome, Retinitis pigmentosa, Genetics, medicine, Humans, Family, penetrance, Allele, Bardet-Biedl Syndrome, Alleles, Genetics (clinical), Genes, Modifier, Genetic heterogeneity, Oligogenic Inheritance, oligogenic, medicine.disease, Penetrance, modifiers, Cytoskeletal Proteins, Ciliopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c5e3195f4ce0b38dbcefe590b61108
https://doi.org/10.1038/ejhg.2011.205

المؤلفون: Fowzan S. Alkuraya, Jawahir Y. Mohamed, Lama Al-Abdi, Mohammed A. Aldahmesh, Arif O. Khan, Mais Hashem, Ismael S Al-Ghamdi

المصدر: Ophthalmic Genetics. 32:138-142

مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, business.industry, Genetic counseling, Glaucoma, Partial aniridia, Consanguinity, medicine.disease, Compound heterozygosity, Dermatology, eye diseases, Ophthalmology, Buphthalmos, Aniridia, Pediatrics, Perinatology and Child Health, medicine, sense organs, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8288dc8a7c84b0f65f8c9a0083ff1f9b
https://doi.org/10.3109/13816810.2010.544365

المؤلفون: Selwa A.F. Al-Hazzaa, Malik Nassan, Zuhair Rahbeeni, May Alrashed, Mohammed Al-Owain, Zuhair N. Al-Hassnan, Ahmed Shamia, Abdullah S. Al-Kharashi, Emad B. Abboud, Mohammed-Adeeb Sebai, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Arif O. Khan, Leen Abu-Safieh, Saad Waheeb, Shamsa Anazi, Mohamed D. Ray-Zack, Jawahir Al-Zahrani, Salwa Al-Tarimi, Fowzan S. Alkuraya

المصدر: Genome research. 23(2)

مصطلحات موضوعية: Disease gene, Genetics, Genotype, Retinal dystrophy, Research, Locus (genetics), Sequence Analysis, DNA, Biology, Bioinformatics, Phenotype, Hereditary Diseases, Mutation, Retinal Dystrophies, Mutation testing, Etiology, Humans, Allelic heterogeneity, Exome, Family, Genetics (clinical), Exome sequencing, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d589b5868b61a727fe1752bb68992daa
https://pubmed.ncbi.nlm.nih.gov/23105016

المؤلفون: Lama Al-Abdi, Fowzan S. Alkuraya, Arif O. Khan, Jawahir Y. Mohamed, Mohammed A. Aldahmesh

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 15:198-199

مصطلحات موضوعية: Male, Juvenile glaucoma, genetic structures, CYP1B1, Gonioscopy, Visual Acuity, Consanguinity, Humans, Medicine, Child, Eye Proteins, Antihypertensive Agents, Intraocular Pressure, Glycoproteins, Genetics, business.industry, Siblings, Homozygote, medicine.disease, Phenotype, eye diseases, Pedigree, body regions, Cytoskeletal Proteins, Ophthalmology, Carrier State, Cytochrome P-450 CYP1B1, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Timolol, Female, Aryl Hydrocarbon Hydroxylases, sense organs, business, Primary juvenile glaucoma, Glaucoma, Open-Angle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd3f89c1e4c2d120a5dcd68845339db
https://doi.org/10.1016/j.jaapos.2011.01.156

المؤلفون: Steve Bobis, Mais Hashem, Lama Al-Abdi, Abdullah Jarallah, Dilek Colak, Emad B. Abboud, Hisham Alkuraya, Leen Abu-Safieh, Georges Nemer, Fadi Bitar, Hala Ahmad, Hanan E. Shamseldin, Shamsa Al-Enzi, Fowzan S. Alkuraya

المصدر: The American Journal of Human Genetics. (2):313-319

مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, MAPK/ERK pathway, Adolescent, IGFBP7, MAP Kinase Signaling System, Retinal Artery, RNA Splicing, Molecular Sequence Data, Biology, medicine.disease_cause, Young Adult, chemistry.chemical_compound, Germline mutation, Downregulation and upregulation, Report, Genetics, medicine, Humans, Genetics(clinical), Family, Child, Extracellular Signal-Regulated MAP Kinases, Genetics (clinical), Mitogen-Activated Protein Kinase Kinases, Mutation, Retinal arterial macroaneurysms, Base Sequence, Retinal, Aneurysm, Phenotype, Pedigree, Up-Regulation, Insulin-Like Growth Factor Binding Proteins, chemistry, Child, Preschool, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb74d882948786e730ae9f398b3f4d5a