المؤلفون: Allison Holt, BS, Sarah Servattalab, MD, Kaitlyn Yim, MD, A. Yasmine Kirkorian, MD, Patrick O’Donnell, DO, Karen Wiss, MD

المصدر: JAAD Case Reports, Vol 48, Iss , Pp 30-32 (2024)

مصطلحات موضوعية: fluctuant nodules, infection, panniculitis, subcutaneous fat necrosis, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352512624001218Test; https://doaj.org/toc/2352-5126Test

الوصول الحر: https://doaj.org/article/d3dc0e9bb8f04065a5829485f0223686Test

المؤلفون: Nicole Trepanowski, MD, Rebecca M. Yim, BA, Rachel Wetstone, MPH, Elizabeth MacDonald, BS, Sarah Servattalab, MD, Subin Jacob-George, PA, John E. Harris, MD, PhD

المصدر: JAAD Case Reports, Vol 42, Iss , Pp 26-30 (2023)

مصطلحات موضوعية: adverse effect, antibody, BMP6, bone morphogenetic protein 6, Dynein light chain Tctex-type 3, Dynlt3, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352512623003806Test; https://doaj.org/toc/2352-5126Test

الوصول الحر: https://doaj.org/article/970c59f6f05341b483ee08942368a88cTest

المؤلفون: Anh Thu N. Lam, Sarah Servattalab, Michael E. Greenberg, R. Sean Hill, Bhaven K. Mehta, Timothy W. Yu, Guzman Sanchez-Schmitz, Kyriacos Markianos, Klaus Schmitz-Abe, Ryan N. Doan, Maria H. Chahrour, Bulent Ataman, Christopher A. Walsh, Eric M. Morrow

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Autism Spectrum Disorder, lcsh:Medicine, Biology, ENCODE, Article, Epigenesis, Genetic, 03 medical and health sciences, Exon, 0302 clinical medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Epigenetics, lcsh:Science, Epigenomics, Regulation of gene expression, Genetics, Multidisciplinary, Homozygote, lcsh:R, medicine.disease, Gene regulation, 030104 developmental biology, Autism spectrum disorder, Computational neuroscience, Human genome, Female, lcsh:Q, 030217 neurology & neurosurgery, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf03fb399b2b487c72c2bdae3023198Test
http://link.springer.com/article/10.1038/s41598-020-70656-0Test

المؤلفون: Victoria K. Robson, Kevin G. Friedman, Jordan E Roberts, Jeffrey I. Campbell, Sarah Servattalab, Audrey Dionne, Pui Y. Lee, Lauren A. Henderson, Karina Javalkar, Mary Beth F. Son, Emily M. Bucholz, Lukas K. Gaffney, Puneeta Arya, Annette L. Baker, Megan Day-Lewis, John N. Kheir, Amy M. Bohling, Sepehr Sekhavat, Ryan Kobayashi, Sarah D. de Ferranti, Jane W. Newburger

المصدر: Pediatrics

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Case-control study, Ethnic group, Odds ratio, Articles, Confidence interval, Health equity, 03 medical and health sciences, 0302 clinical medicine, Quartile, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Epidemiology, medicine, business, Socioeconomic status, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6bca356cd4c3b0fa767ede283040dbTest
https://europepmc.org/articles/PMC8086000Test/

المؤلفون: May L. Griebel, Klaus Schmitz-Abe, Anh Thu N. Lam, Abdullah Abu Jamea, Caroline D. Robson, Mauricio R. Delgado, Sarah Servattalab, Mohammad Asif Dogar, Ibrahim A. Alorainy, A. James Barkovich, Maya Peeva, Saumya Shekhar Jamuar, Marie Drottar, Kyriacos Markianos, Khaled K. Abu-Amero, Zayed Al Zayed, Elizabeth C. Engle, P. Ellen Grant, Alissa M. D'Gama, Wai-Man Chan, Christopher A. Walsh, Nancy J. Clegg, Ed S. Lein, Timothy W. Yu, Wendy L. Ward, Thomas M. Bosley

المصدر: Nature genetics

مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, Loss of Heterozygosity, Receptors, Cell Surface, Scoliosis, Biology, Hippocampal formation, Polymorphism, Single Nucleotide, Mirror movements, Article, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Agenesis of the corpus callosum, Neurons, Brain, Gene Expression Regulation, Developmental, Horizontal gaze palsy, Anatomy, Commissure, medicine.disease, Phenotype, 030104 developmental biology, Mutation, Female, Brainstem, Colorectal Neoplasms, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810f6d374273cf3a5e7ec3c2d4ae6babTest
https://doi.org/10.1038/ng.3804Test

المؤلفون: Ganeshwaran H. Mochida, Andrew H. Crosby, Gilad D. Evrony, Christopher A. Walsh, S. Al-Turki, Barry A. Chioza, Robert Sean Hill, Aisha Al-Khayat, Ali Al-Memar, Matthew E. Hurles, M. A. Patton, Jennifer N. Partlow, Sarah Servattalab, Kyriacos Markianos, Anna Rajab, Mustafa Y. Ahmed, K. Schmitz-Abe, Emma L. Baple

المصدر: Neurology. 84:1745-1750

مصطلحات موضوعية: Candidate gene, Oman, Genetic Linkage, Population, Pontocerebellar hypoplasia, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Consanguinity, symbols.namesake, Cerebellar Diseases, Genetic linkage, medicine, Humans, Exome, Child, education, Sanger sequencing, Genetics, education.field_of_study, Mutation, Sequence Analysis, RNA, Neuropeptides, medicine.disease, Pedigree, Cytoskeletal Proteins, Codon, Nonsense, symbols, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4922c2ed269eb5e947e87453ba6fa61bTest
https://doi.org/10.1212/wnl.0000000000001523Test

المؤلفون: Timothy W. Yu, Jian Wang, Eva Andermann, Michael J. Bamshad, Bai-Lin Wu, Elena Parrini, Bernard Dan, Xiaochang Zhang, Dina Amrom, Jay Shendure, Samuel F. Berkovic, Aldo Rozzo, Annapurna Poduri, Yiping Shen, Bhaven K. Mehta, Bernard S. Chang, Robert Sean Hill, Renzo Guerrini, Meral Topçu, Deborah A. Nickerson, Martin Kircher, A. James Barkovich, Alissa M. D'Gama, Richard J. Leventer, Sarah Servattalab, Ingrid E. Scheffer, Brenda J. Barry, Mustafa Sahin, Jennifer N. Partlow, Saumya Shekhar Jamuar, Christopher A. Walsh, Anh Thu N. Lam

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: The New England journal of medicine, vol 371, iss 8

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Candidate gene, Intellectual and Developmental Disabilities (IDD), DNA Mutational Analysis, Lissencephaly, Classical Lissencephalies and Subcortical Band Heterotopias, medicine.disease_cause, Medical and Health Sciences, Article, symbols.namesake, Periventricular Nodular Heterotopia, General & Internal Medicine, Genetics, medicine, Polymicrogyria, 2.1 Biological and endogenous factors, Humans, Genetic Testing, Megalencephaly, Aetiology, Exome, Cerebral Cortex, Sanger sequencing, Mutation, business.industry, Pachygyria, Human Genome, Neurosciences, General Medicine, medicine.disease, Magnetic Resonance Imaging, Brain Disorders, Malformations of Cortical Development, Mental Health, Neurological, symbols, business

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19a359c20a3f3ec7c08cb1303017fbcTest
https://doi.org/10.1056/nejmoa1314432Test

المؤلفون: Laurence Colleaux, Sarah Servattalab, Dorothée Ville, Jacqueline Rodriguez, Jiqiang Ling, Giulia Barcia, Jiang Wu, Jill M. Weimer, R. Sean Hill, Arnold Munnich, Timothy W. Yu, Lili Jing, Olivier Dulac, Anh Thu N. Lam, Jennifer N. Partlow, Nathalie Boddaert, Ganeshwaran H. Mochida, Leonard I. Zon, Quinn Stein, Dieter Söll, Annapurna Poduri, Christopher A. Walsh, Xiaochang Zhang, Rima Nabbout, Brenda J. Barry

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Molecular Biophysics and Biochemistry-Yale (DMBB), Yale University [New Haven], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2014, 94 (4), pp.547-558. ⟨10.1016/j.ajhg.2014.03.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (4), pp.547-558. ⟨10.1016/j.ajhg.2014.03.003⟩

مصطلحات موضوعية: Male, Microcephaly, Aminoacylation, Biology, medicine.disease_cause, Article, Amino Acyl-tRNA Synthetases, Atrophy, Seizures, Genetics, medicine, Animals, Humans, Genetics(clinical), Genetic Predisposition to Disease, Zebrafish, Genetics (clinical), Loss function, ComputingMilieux_MISCELLANEOUS, Mutation, Brain Diseases, medicine.disease, Magnetic Resonance Imaging, Pedigree, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cerebral cortex, Child, Preschool, Cerebellar vermis, Cerebellar atrophy, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149ab10d622429272989a6fcc96f2916Test
https://hal.science/hal-02142133Test

المؤلفون: Hemant Khanna, Ozge Yildiz, Sarah Servattalab

المصدر: International Journal of Ophthalmic Pathology.

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, media_common.quotation_subject, Cilium, Light signal, Article, eye diseases, Ophthalmology, Perception, medicine, sense organs, business, Neuroscience, Protein trafficking, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0fa9641478efd8c148c4ac082b1546Test
https://doi.org/10.4172/2324-8599.1000e101Test

المؤلفون: Dimira Tambunan, Michael E. Coulter, Malak El-Quessny, Sarah Servattalab, Grzegorz Gorski, Samir Khalil, R. Sean Hill, A. James Barkovich, Annapurna Poduri, Ganeshwaran H. Mochida, Almundher Al-Maawali, Ramzi Nasir, Joan M. Stoler, Muna Al-Saffar, Jennifer N. Partlow, Wen-Hann Tan, Anna Rajab, Tojo Nakayama, Christopher M. LaCoursiere, Princess C. Elhosary, Kyriacos Markianos, Klaus Schmitz-Abe

المصدر: American journal of human genetics, vol 96, iss 5

مصطلحات موضوعية: Male, Microcephaly, Mitochondrial Diseases, Amino Acid Transport Systems, Genotype, Amino Acid Transport Systems, Acidic, Intellectual and Developmental Disabilities (IDD), Mutant, Postnatal microcephaly, Biology, medicine.disease_cause, Isozyme, Medical and Health Sciences, Article, Antiporters, Rare Diseases, Clinical Research, medicine, Genetics, Humans, 2.1 Biological and endogenous factors, Genetics(clinical), Aetiology, Gene, Zebrafish, Genetics (clinical), Pediatric, Genetics & Heredity, Mutation, Acidic, Homozygote, Human Genome, Neurosciences, Biological Sciences, medicine.disease, biology.organism_classification, Phenotype, Brain Disorders, Hereditary Central Nervous System Demyelinating Diseases, Congenital Structural Anomalies, Pyrroline Carboxylate Reductases, Female, Generic health relevance, Psychomotor Disorders

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::915c1784c707815a3a7cb3cdd1f9ffffTest