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1Academic Journal
المؤلفون: Choufani, S. (Sanaa), McNiven, V. (Vanda), Cytrynbaum, C. (Cheryl), Jangjoo, M. (Maryam), Adam, M. P. (Margaret P.), Bjornsson, H. T. (Hans T.), Harris, J. (Jacqueline), Dyment, D. A. (David A.), Graham, G. E. (Gail E.), Nezarati, M. M. (Marjan M.), Aul, R. B. (Ritu B.), Castiglioni, C. (Claudia), Breckpot, J. (Jeroen), Devriendt, K. (Koen), Stewart, H. (Helen), Banos-Pinero, B. (Benito), Mehta, S. (Sarju), Sandford, R. (Richard), Dunn, C. (Carolyn), Mathevet, R. (Remi), van Maldergem, L. (Lionel), Piard, J. (Juliette), Brischoux-Boucher, E. (Elise), Vitobello, A. (Antonio), Faivre, L. (Laurence), Bournez, M. (Marie), Tran-Mau, F. (Frederic), Maystadt, I. (Isabelle), Fernandez-Jaen, A. (Alberto), Alvarez, S. (Sara), Garcia-Prieto, I. D. (Irene Diez), Alkuraya, F. S. (Fowzan S.), Alsaif, H. S. (Hessa S.), Rahbeeni, Z. (Zuhair), El-Akouri, K. (Karen), Al-Mureikhi, M. (Mariam), Spillmann, R. C. (Rebecca C.), Shashi, V. (Vandana), Sanchez-Lara, P. A. (Pedro A.), Graham, J. M. (John M., Jr.), Roberts, A. (Amy), Chorin, O. (Odelia), Evrony, G. D. (Gilad D.), Kraatari-Tiri, M. (Minna), Dudding-Byth, T. (Tracy), Richardson, A. (Anamaria), Hunt, D. (David), Hamilton, L. (Laura), Dyack, S. (Sarah), Mendelsohn, B. A. (Bryce A.), Rodriguez, N. (Nicolas), Sanchez-Martinez, R. (Rosario), Tenorio-Castano, J. (Jair), Nevado, J. (Julian), Lapunzina, P. (Pablo), Tirado, P. (Pilar), Rodrigues, M. C. (Maria-Teresa Carminho Amaro), Quteineh, L. (Lina), Innes, A. M. (A. Micheil), Kline, A. D. (Antonie D.), Au, P. Y. (P. Y. Billie), Weksberg, R. (Rosanna)
مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semantics/altIdentifier/eissn/1537-6605
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2Academic Journal
المؤلفون: Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A Micheil, Kline, Antonie D, Au, PY Billie, Weksberg, Rosanna
مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder, Abnormalities, Multiple, Chromatin, DNA Methylation, Epigenesis, Genetic, Face, Hematologic Diseases, Heterogeneous-Nuclear Ribonucleoprotein K, Humans, Intellectual Disability, Phenotype, Vestibular Diseases
وصف الملف: application/pdf
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3
المؤلفون: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg
المصدر: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instnameمصطلحات موضوعية: DNA methylation signature, Kabuki syndrome, HNRNPK, RNA processing gene, epigenetics, DNA Methylation, Okamoto syndrome, neurodevelopmental disorder, Hematologic Diseases, Chromatin, Epigenesis, Genetic, episignature, Heterogeneous-Nuclear Ribonucleoprotein K, Phenotype, Vestibular Diseases, Face, Intellectual Disability, Genetics, Humans, Au-Kline syndrome, Abnormalities, Multiple, Genetics (clinical)
وصف الملف: Print-Electronic; application/pdf
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4Academic Journal
المؤلفون: Kline, Antonie D
المصدر: Genetics and Genomics
مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, pigenetics, episignature, neurodevelopmental disorder, Medical Genetics
Relation: https://scholarlycommons.gbmc.org/genetics_genom/39; https://pubmed.ncbi.nlm.nih.gov/36130591/
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5
المصدر: American Journal of Medical Genetics Part A. 182:1537-1539
مصطلحات موضوعية: Heterogeneous-Nuclear Ribonucleoprotein K, Genetics, business.industry, Mutation, Okamoto syndrome, Mutation (genetic algorithm), Humans, Medicine, Syndrome, business, Genetics (clinical)
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6
المؤلفون: Nobuhiko Okamoto
المصدر: American Journal of Medical Genetics Part A. 179:822-826
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Ureteropelvic junction, Hydronephrosis, 030105 genetics & heredity, medicine.disease_cause, Diagnosis, Differential, Heterogeneous-Nuclear Ribonucleoprotein K, 03 medical and health sciences, symbols.namesake, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Association Studies, Genetics (clinical), Sanger sequencing, Mutation, business.industry, Generalized hypotonia, Okamoto syndrome, Facies, Exons, medicine.disease, Introns, Cleft Palate, Radiography, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, symbols, Muscle Hypotonia, Female, AU-KLINE SYNDROME, business
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7
المؤلفون: Susan Sklower Brooks, Fatu S. Conteh, Rachana Tyagi
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Muscle Hypotonia, Treatment outcome, MEDLINE, Hydronephrosis, 030105 genetics & heredity, Okamoto syndrome, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Humans, Medicine, Neural Tube Defects, Child, Tethered Cord, Genetic Association Studies, Genetics (clinical), Tethered cord, medicine.diagnostic_test, business.industry, fungi, Facies, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Surgery, Cleft Palate, Phenotype, Treatment Outcome, Pediatrics, Perinatology and Child Health, Anatomy, business, 030217 neurology & neurosurgery
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8
المؤلفون: Robert J Wallerstein, Sharon Zheng, Ling-yu Shih, Eric Poon, Mei-Heung Fong
المصدر: Clinical Dysmorphology. 14:85-87
مصطلحات موضوعية: Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Lower lip, Multiple congenital anomaly, Heart defect, Hydronephrosis, Pathology and Forensic Medicine, Diagnosis, Differential, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), business.industry, Okamoto syndrome, Brain, Facies, Infant, Syndrome, General Medicine, Congenital hydronephrosis, Hypotonia, Cleft Palate, Splenomegaly, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Anatomy, medicine.symptom, business
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9
المؤلفون: Juliet Taylor, Salim Aftimos
المصدر: Clinical dysmorphology. 19(2)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Okamoto syndrome, Infant, Newborn, General Medicine, Syndrome, Pathology and Forensic Medicine, Fatal Outcome, Pregnancy, Pediatrics, Perinatology and Child Health, medicine, Humans, Abnormalities, Multiple, Female, Anatomy, business, Genetics (clinical)
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10
المؤلفون: Themistokles Karpathios, Argirios Dinopoulos, Sophia Kitsiou-Tzeli, Achilleas Attilakos, Andrew Fretzayas, Margharita Markouri, Chryssa Bakoula
المصدر: Developmental medicine and child neurology. 50(12)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, media_common.quotation_subject, DNA Mutational Analysis, Hydronephrosis, Biology, Kidney, White People, Craniofacial Abnormalities, Diagnosis, Differential, Developmental Neuroscience, Anal stenosis, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Girl, Global developmental delay, Ductus Arteriosus, Patent, media_common, medicine.diagnostic_test, Generalized hypotonia, Okamoto syndrome, Chromosome, Facies, Infant, Syndrome, Congenital hydronephrosis, Cleft Palate, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), Fluorescence in situ hybridization, Follow-Up Studies
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11
المؤلفون: Robert Wallerstein, Frances Rhoads
المصدر: Clinical Dysmorphology. 22:127-128
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, MEDLINE, Hydronephrosis, Pathology and Forensic Medicine, Intellectual Disability, Humans, Medicine, Child, Genetics (clinical), business.industry, Okamoto syndrome, Facies, General Medicine, eye diseases, Hypotonia, Congenital hydronephrosis, Cleft Palate, Natural history, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Anatomy, medicine.symptom, business