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1دورية أكاديمية
المؤلفون: Moon Ley Tung, Karin Panzer, Nicole Safina, Alpa Sidhu
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100362- (2023)
وصف الملف: electronic resource
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المؤلفون: Ashley Cannon, Heather B. Radtke, Allison L. Goetsch, Caroline McGowan, Amanda L. Bergner, Karin Panzer
المصدر: Journal of Genetic Counseling. 29:692-714
مصطلحات موضوعية: Neurofibromatosis 2, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, medicine.diagnostic_test, Health professionals, business.industry, Genetic counseling, Genetic Counseling, medicine.disease, Resource (project management), Family medicine, medicine, Clinical genetic, Humans, Neurofibromatosis type 2, Neurofibromatosis, business, Schwannomatosis, Neurilemmoma, Societies, Medical, Genetics (clinical), Genetic testing
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
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المؤلفون: Fowzan S. Alkuraya, Eric J. Mallack, Ingrid M. Wentzensen, John Karl de Dios, Subhadra Ramanathan, Robin D. Clark, Alpa Sidhu, Mais Hashem, Valérie Cormier-Daire, Maya Chopra, Danita Velasco, Shenela Lakhani, Lois J. Starr, Emily Singh, Didier Lacombe, Karin Panzer, Chloe Whitton, Elizabeth E. Palmer, Vincent Michaud, Lance H. Rodan, Christoffer Nellåker
المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Developmental delay, Intellectual disability, Nerve Tissue Proteins, 03 medical and health sciences, Epilepsy, Exon, 0302 clinical medicine, Atrophy, Neurodevelopmental disorder, Genetics, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Global developmental delay, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Arthrogryposis, 0303 health sciences, business.industry, Facies, Genomics, Syndrome, medicine.disease, Rare diseases, 3. Good health, Phenotype, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
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المؤلفون: null Elizabeth E. Palmer, null Chloe Whitton, null Mais O. Hashem, null Robin D. Clark, null Subhadra Ramanathan, null Lois J. Starr, null Danita Velasco, null John Karl De Dios, null Emily Singh, null Valerie Cormier‐Daire, null Maya Chopra, null Lance H. Rodan, null Christoffer Nellaker, null Shenela Lakhani, null Eric J. Mallack, null Karin Panzer, null Alpa Sidhu, null Ingrid M. Wentzensen, null Didier Lacombe, null Vincent Michaud, null Fowzan S. Alkuraya
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af27e6355f3ad15f2dffd84397e8133c
https://doi.org/10.1111/cge.14022/v2/response1 -
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المؤلفون: John K. Petty, Pamela Trapane, Albino Bacolla, Zhiyv Niu, Qian Liu, David Zhang, Nina G. Xie, Rui Xiao, Patrick E. Lantz, Lucia R. Wu, Balagangadhar R. Totapally, Przemyslaw Szafranski, Karin Panzer, Justyna A. Karolak, Pawel Stankiewicz
المصدر: American Journal of Medical Genetics Part A. 179:2272-2276
مصطلحات موضوعية: Male, 0301 basic medicine, Alveolar capillary dysplasia, Heterozygote, Haploinsufficiency, 030105 genetics & heredity, Biology, Persistent Fetal Circulation Syndrome, Article, Frameshift mutation, 03 medical and health sciences, Exon, INDEL Mutation, Tandem repeat, Genetics, medicine, Humans, Frameshift Mutation, Indel, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, Lung, Point mutation, Infant, Newborn, Infant, Forkhead Transcription Factors, medicine.disease, Pulmonary hypertension, Pulmonary Alveoli, Enhancer Elements, Genetic, 030104 developmental biology, medicine.anatomical_structure, Pulmonary Veins, Tandem Repeat Sequences, CpG Islands, Female
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المؤلفون: Renkui Bai, John M. Graham, Margaret G. Au, Maria Gabriela Otero, Emmanuelle Tiongson, Jaemin Kim, Francisca Millian Zamora, Tyler Mark Pierson, Katherine D. Mathews, Hong Cui, Ashley Collier, Katrina Haude, Cynthia J. Tifft, Frank Diaz, David H. Adams, Camilo Toro, Lesley Turner, David Buckley, Karin Panzer, Richard A. Lewis, William A. Gahl
المصدر: Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 6, iss 1مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Ataxia, Adolescent, Clinical Sciences, Neurodegenerative, Brief Communication, Electron Transport Complex IV, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Rare Diseases, Clinical Research, Complementary DNA, medicine, Genetics, Missense mutation, 2.1 Biological and endogenous factors, Humans, Aetiology, Hereditary Sensory and Autonomic Neuropathies, Child, Peripheral Neuropathy, Exome sequencing, Dystonia, business.industry, General Neuroscience, Neurosciences, medicine.disease, Phenotype, Hypotonia, Pedigree, 030104 developmental biology, Neurological, Female, Neurology (clinical), medicine.symptom, business, Brief Communications, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Oleg A Shchelochkov, Karin Panzer, Jennifer Cook, Osayame A. Ekhaguere, Benjamin W. Darbro
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutation, Missense, Steroid 3β-HSD2 deficiency, Genes, Recessive, Case Report, 030209 endocrinology & metabolism, 030105 genetics & heredity, uniparental isodisomy, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Missense mutation, Congenital adrenal hyperplasia, Hydroxysteroid dehydrogenase, In Situ Hybridization, Fluorescence, HSD3B2 gene, Sanger sequencing, Genetics, Adrenal Hyperplasia, Congenital, Progesterone Reductase, business.industry, Homozygote, Infant, Newborn, Adrenal crisis, Uniparental Disomy, medicine.disease, Uniparental disomy, Uniparental Isodisomy, Chromosomes, Human, Pair 1, Pediatrics, Perinatology and Child Health, HSD3B2, symbols, medicine.symptom, business
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المؤلفون: Alisha Wilkins, Akemi J. Tanaka, Adolfo Garnica, Xilma R. Ortiz-Gonzalez, Kyle Retterer, Ada Hamosh, Jane Juusola, Catharina M L Volker-Touw, Kristin G. Monaghan, Charuta Joshi, Dianalee McKnight, Koen L.I. van Gassen, Megan T. Cho, Edward Gratz, Ellen van Binsbergen, Matthew A. Deardorff, Katherine D. Mathews, Nara Sobreira, Dmitriy Niyazov, Wendy K. Chung, Karin Panzer, Francisca Millan, Eva H. Brilstra
المصدر: American Journal of Human Genetics, 97(3), 457. Cell Press
مصطلحات موضوعية: Male, Microcephaly, Hearing loss, Molecular Sequence Data, Genes, Recessive, Cortical visual impairment, Biology, Research Support, medicine.disease_cause, Bioinformatics, N.I.H, Gene Frequency, Research Support, N.I.H., Extramural, Seizures, Report, Intellectual Disability, Intellectual disability, Journal Article, medicine, Genetics, Humans, Abnormalities, Multiple, Exome, Genetics(clinical), Amino Acid Sequence, Hearing Loss, Non-U.S. Gov't, Genetics (clinical), Homeodomain Proteins, Mutation, Base Sequence, Research Support, Non-U.S. Gov't, Extramural, Sequence Analysis, DNA, medicine.disease, Hypotonia, ATPases Associated with Diverse Cellular Activities, Female, Sensorineural hearing loss, medicine.symptom, Sequence Alignment
وصف الملف: image/pdf
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المؤلفون: Takashi Shawn Sato, F.A. De Stefano, Karin Panzer, David K. Meyerholz, Benjamin W. Darbro, Rajesh Khanna, Dawn E. Quelle, Jessica C. Sieren, Jill M. Weimer, Johanna Uthoff
المصدر: J Neuroradiol
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Malignant peripheral nerve sheath tumor, Computed tomography, Malignancy, Article, Nerve Sheath Neoplasms, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Positron Emission Tomography Computed Tomography, Image Interpretation, Computer-Assisted, medicine, Medical imaging, Biomarkers, Tumor, Humans, Radiology, Nuclear Medicine and imaging, Neurofibromatosis, Retrospective Studies, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Reproducibility of Results, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Cell Transformation, Neoplastic, Feature (computer vision), Positron emission tomography, Female, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d422f8a7bbd8d3537e0df4c71995cce0
https://europepmc.org/articles/PMC6310110/