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المؤلفون: James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal
المساهمون: Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS), R01 NS037402/NH/NIH HHS/United StatesR01 NS083373/NH/NIH HHS/United StatesT32 AI007417/AI/NIAID NIH HHS/United StatesCURE/CURE, Citizens United for Research in Epilepsy/United StatesR01 NS037402/NS/NINDS NIH HHS/United StatesR21 NS096677/NS/NINDS NIH HHS/United StatesK08 NS070931/NS/NINDS NIH HHS/United StatesK08 NS070931/NH/NIH HHS/United StatesR01 GM077875/GM/NIGMS NIH HHS/United StatesR01 GM089778/GM/NIGMS NIH HHS/United StatesR01 GM089778/NH/NIH HHS/United StatesR01 NS083373/NS/NINDS NIH HHS/United States, Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École pratique des hautes études (EPHE)
المصدر: Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩مصطلحات موضوعية: Male, 0301 basic medicine, Potassium Channels, Movement disorders, MESH: Lysosomes/pathology, KCTD7, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], MESH: Potassium Channels/deficiency, MESH: Lysosomes/genetics, MESH: Neurodegenerative Diseases/pathology, Age of Onset, Genetics, Neurodegenerative Diseases, MESH: Infant, Pedigree, 3. Good health, medicine.anatomical_structure, Neurology, Child, Preschool, Female, MESH: Autophagy/genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Saccharomyces cerevisiae Proteins, MESH: Mutation, Protein family, MESH: Pedigree, MESH: Age of Onset, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Progressive myoclonus epilepsy, Biology, Article, Lipofuscin, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Lysosome, Autophagy, medicine, Humans, MESH: Neurodegenerative Diseases/genetics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Potassium Channels/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Child, Preschool, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, MESH: Saccharomyces cerevisiae Proteins/genetics, 030104 developmental biology, Mutation, Neuronal ceroid lipofuscinosis, Neurology (clinical), Age of onset, Lysosomes, MESH: Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e934647c53095a558f35a183951ec7eeTest
https://doi.org/10.1002/ana.25351Test -
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المؤلفون: Christine Stanley, Jennifer Twachtman-Bassett, Justin Cotney, Kristin Tokarski, Louisa Kalsner, Thyde Dumont-Mathieu, Stormy J. Chamberlain
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, targeted gene panel, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Population, Genomics, 03 medical and health sciences, Genetics, medicine, Ethnicity, Humans, Exome, Genetic Predisposition to Disease, Copy-number variation, Genetic Testing, education, Child, Molecular Biology, Genetics (clinical), Exome sequencing, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, KIRREL3, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Original Articles, Penetrance, racial/ethnic diversity, TSC2, 030104 developmental biology, Child, Preschool, Medical genetics, Original Article, Female, business, Carrier Proteins, microarray
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a0384422db90a0eb37d0f99002a2c4Test
http://europepmc.org/articles/PMC5902398Test -
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المؤلفون: Chung H. Wu, Ahmad Nazari, Jerone H. Check, Christine Stanley, B S Shanis, Jeffrey S. Chase
المصدر: American journal of obstetrics and gynecology. 160(3)
مصطلحات موضوعية: Adult, Ovulation, endocrine system, medicine.medical_specialty, media_common.quotation_subject, Biopsy, Luteal phase, Endometrium, Follicle-stimulating hormone, Atrophy, Internal medicine, medicine, Humans, Amenorrhea, media_common, business.industry, Uterus, Obstetrics and Gynecology, medicine.disease, Hysterosalpingography, medicine.anatomical_structure, Endocrinology, Female, Laparoscopy, Uterine cavity, medicine.symptom, Follicle Stimulating Hormone, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5020f260bf4ff730434f40641d923bTest
https://pubmed.ncbi.nlm.nih.gov/2339749Test