المؤلفون: Adnan Alsadah

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101057- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002036; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/6623033cfaa94baca343b49750b2d08c

المؤلفون: Adnan Alsadah

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101230- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003765; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/2fc5d13e077144b4a9bcfbbe00878823

المؤلفون: Adnan Alsadah

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101261- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424004072; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/19de118ea85f48d393c7765b1aa27385

المؤلفون: Julie Kaplan, Adnan Alsadah

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101320- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424004667; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/9dab3517bdaa473e8383d1b61ae8552a

المؤلفون: Xin Yee Tan, Chloe Borden, Mary-Beth Roberts, Sarah Mazzola, Queenie K.-G. Tan, Richard Fatica, James Simon, Juan Calle, Jonathan Taliercio, Katherine Dell, Laura Ferreira Provenzano, Diana Deitzer, Hernan Rincon-Choles, Ali Mehdi, Michael Lioudis, Emilio D. Poggio, Georges Nakhoul, Saul Nurko, Tarek Ashour, Raed N. Bou Matar, Charles Kwon, Brian Stephany, George Thomas, Yu-Wei Cheng, Deanna Leingang, Adnan Alsadah, Rhyan Maditz, Heyka Robert, Tushar Vachhrajani, John Sedor, Crystal Gadegbeku, Xiangling Wang

المصدر: Kidney Medicine, Vol 5, Iss 2, Pp 100585- (2023)

مصطلحات موضوعية: Genetic testing, kidney disease, renal genetics, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590059522002187; https://doaj.org/toc/2590-0595

URL الوصول: https://doaj.org/article/6b849a4034d44aa5b072e20c0f99cd74

المؤلفون: Lina Hussain AlLehaibi, Hawra Adnan Alsadah, Rizwan Ahmad, Saira Zahoor, Reem Ahmed Alraya, Muhammad Riaz, Ahmed Aljamea

المصدر: Boletin Latinoamericano y del Caribe de Plantas Medicinales y Aromaticas. 20:558-574

مصطلحات موضوعية: Pharmacology, Coma, medicine.medical_specialty, biology, Ginkgo biloba, business.industry, Priapism, Neurotoxicity, Plant Science, medicine.disease, biology.organism_classification, Pyridoxine, Nutraceutical, Complementary and alternative medicine, Internal medicine, Drug Discovery, medicine, medicine.symptom, business, Rhabdomyolysis, Self-medication, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e75f582a4cedf4da664801eeb65d48da
https://doi.org/10.37360/blacpma.21.20.6.41

المؤلفون: Adnan Alsadah

المصدر: Genetics in Medicine. 24:S49

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::34a565176170f6bf8c43e66a98234032
https://doi.org/10.1016/j.gim.2022.01.111

المؤلفون: Xiangling Wang, Mary-Beth Roberts, Sarah Mazzola, Deanna Leingang, Adnan Alsadah, Queenie Khoon Ghee Tan, Yu-Wei Cheng

المصدر: Genetics in Medicine. 24:S176

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::600cfeb1c8db351648c829f269a06d88
https://doi.org/10.1016/j.gim.2022.01.314

المؤلفون: Ruth K. Abramson, Jeffrey Addison, Adnan Alsadah, Ashok Balasubramanyam, Mir Reza Bekheirnia, Nasim Bekheirnia, John Christopher Berens, Katie Lee Bergstrom, Thomas D. Bird, Maria Blazo, Nicola Brunetti-Pierri, Lindsay Burrage, Sandra Darilek, Shweta U. Dhar, Harry C. Dietz, Tanya N. Eble, Edward D. Esplin, David Flannery, J. Scott Gabrielsen, Jaya Ganesh, Aixa Gonzalez Garcia, Monica Giovanni, Kevin E. Glinton, Christi J. Guerrini, Trevor D. Hadley, Jessica Hause, Lauren E. Hipp, Fuki M. Hisama, Sarah Huguenard, Krystal M. Jones, Dolores J. Lamb, Gabriel Lazaro-Munoz, Brendan Lee, Moise L. Levy, Gretchen MacCarrick, Ronit Marom, Amy L. McGuire, Luisa Mestroni, Avni Mody, David R. Murdock, Michael F. Murray, Sandesh C.S. Nagamani, Cynthia Peacock, Jennifer E. Posey, Huma Rana, Jill A. Rosenfeld, Susan L. Samson, Fernando Scaglia, Aeron M. Small, Matthew R.G. Taylor, Megan E. Tucker, Wendy R. Uhlmann, Ignatia B. Van den Veyver, Jaime Vengoechea, Jennifer Weiss, Dina Winograd, Wojciech Wiszniewski, Sarvari Yellapragada, Anna Zakas, Lilei Zhang

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ffc6e3ac620bcc39030b205dbdb0e88d
https://doi.org/10.1016/b978-0-12-817344-2.00034-4

المؤلفون: David Flannery, Adnan Alsadah

مصطلحات موضوعية: Documentation, Actuarial science, Nuts and bolts, Clinical genetic, Business, Service provider, Medicaid, Reimbursement, Coding (social sciences)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7953aad274c3ff330a61e754849dc66
https://doi.org/10.1016/b978-0-12-817344-2.00025-3

المؤلفون: Sarah Mazzola, Jacquelyn D. Riley, Caroline Astbury, Adnan Alsadah, Carol Delahunty

المصدر: European journal of medical genetics. 63(5)

مصطلحات موضوعية: Genetics, Male, DNA Copy Number Variations, Infant, General Medicine, Microdeletion syndrome, Biology, medicine.disease, Receptors, GABA-A, DNA Topoisomerases, Type I, Autism spectrum disorder, Schizophrenia, Child, Preschool, mental disorders, Gene duplication, medicine, Autism, Humans, Female, Copy-number variation, Sibling, Autistic Disorder, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73ea007f3dbb1a139b57268afa5869c
https://pubmed.ncbi.nlm.nih.gov/32028044

المؤلفون: Adnan Alsadah, Nhu-Hac Truong, Aditi Yadav

المصدر: Molecular Genetics and Metabolism. 132:S79

مصطلحات موضوعية: Endocrinology, biology, Endocrinology, Diabetes and Metabolism, Genetics, Cancer research, biology.protein, IMAGe Syndrome, Clinical phenotype, Molecular Biology, Biochemistry, Binding domain, Proliferating cell nuclear antigen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64c4fa3440950005568951dc549f44b4
https://doi.org/10.1016/s1096-7192(21)00202-x

المؤلفون: Daniel S. Chow, Jessica Brennan, Marsha M. Lee, Aris Oates, Adnan Alsadah, Anne Slavotinek

المصدر: Pediatric Transplantation. 20:1000-1003

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, business.industry, medicine.medical_treatment, 030232 urology & nephrology, Cerebrovascular disorder, medicine.disease, Revascularization, Surgery, End stage renal disease, 03 medical and health sciences, 0302 clinical medicine, medicine.artery, Internal medicine, Pediatrics, Perinatology and Child Health, Middle cerebral artery, medicine, Cardiology, Moyamoya disease, Cerebral perfusion pressure, business, Stroke, 030217 neurology & neurosurgery, Kidney transplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::26e6266ac17b35d2d2f7ca250a34a4c6
https://doi.org/10.1111/petr.12758

المؤلفون: Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras

المساهمون: Human genetics, Clinical Genetics

المصدر: Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029

مصطلحات موضوعية: Premature Stop Codon, Male, Adolescent, genotype-phenotype correlation, Mutation, Missense, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, whole exome sequencing, Neurodevelopmental disorder, All institutes and research themes of the Radboud University Medical Center, SATB2-associated syndrome, Genetics, medicine, Missense mutation, Coding region, Animals, Humans, Child, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Gene Rearrangement, 0303 health sciences, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, SATB2, Matrix Attachment Region Binding Proteins, medicine.disease, Phenotype, pathogenic variants, Disease Models, Animal, Neurodevelopmental Disorders, Child, Preschool, Codon, Terminator, Female, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e618cf5dc8d5560df1a89aab788c591
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17

المؤلفون: Anne Slavotinek, Lakshmi Mehta, Dina Schneidman-Duhovny, Heather Pierce, Stephanie J DeWard, Gabriela Schmajuk, Michelle Cahr, Julie Kaylor, Adnan Alsadah, Fadi Salem

المصدر: American journal of human genetics, vol 96, iss 1

مصطلحات موضوعية: Male, medicine.medical_specialty, Protein Structure, Secondary, Amniotic fluid, Kidney Disease, Nephrotic Syndrome, Nephrosis, Renal and urogenital, Biology, Compound heterozygosity, Medical and Health Sciences, Protein Structure, Secondary, Nephrin, Fetus, Clinical Research, Pregnancy, Internal medicine, Report, medicine, Genetics, 2.1 Biological and endogenous factors, Humans, Genetics(clinical), Aetiology, Child, Congenital nephrotic syndrome, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, Genetic Variation, Membrane Proteins, Biological Sciences, medicine.disease, Amniotic Fluid, Endocrinology, Phenotype, biology.protein, Female, alpha-Fetoproteins, Carrier Proteins, Nephrotic syndrome, Hydrocephalus

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fe56844edc10a5f7dc88cd9f1677cd
https://europepmc.org/articles/PMC4289687/

المؤلفون: Hengameh Zahed, Teresa N. Sparks, Adnan Alsadah, Joseph T. Shieh, Ben Li

المصدر: The Journal of Pediatrics. 189:222-226.e1

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Single gene, Biology, Genetic Condition, Article, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Gene panel, medicine, Humans, Genetic Testing, Child, Exome, Exome sequencing, Genetics, Genomic sequencing, Early disease, Genetic Diseases, Inborn, Sequence Analysis, DNA, Gitelman syndrome, medicine.disease, Early Diagnosis, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Gitelman Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6dbb5520d8360193199bd03a0106a93
https://doi.org/10.1016/j.jpeds.2017.06.040