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1. Genes & development
and Cold Spring Harbor LaboratoryGenetical Society (Great Britain)
Genes & development, ISSN 0890-9369, 1987
Genetics | Periodicals | Developmental genetics
Journal
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2. Genes, brain, and development
: the neurocognition of genetic disorders
by Barnes, Marcia A., 1958
2010, 1, Series for the International Neuropsychological Society, ISBN 9780521685368, xv, 220
Brain | Neurologic manifestations of general diseases | growth & development | Human Development | Genetic disorders | genetics | Genetic Diseases, Inborn | Genetic aspects | Models, Neurological | Developmental disabilities | Psychophysiology
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3. Full Text Developmental Medicine Child Neurology
eJournal
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4. Inborn errors of development
: the molecular basis of clinical disorders of morphogenesis
by Epstein, Charles J and Erickson, Robert P., 1939 and Wynshaw-Boris, Anthony Joseph
2004, Oxford monographs on medical genetics, ISBN 9780195145021, Volume no. 49, xxiv, 1082
Genetic disorders in children | Developmental genetics | Genetic disorders | Human Development | genetics | Abnormalities | Genetic Diseases, Inborn | Genetic aspects | Developmental disabilities
Book
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5. Full Text Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort
by Eggers, Stefanie and Sadedin, S and van den Bergen, J.A and Robevska, G and Ohnesorg, T and Hewitt, Joanne and Lambeth, L and Bouty, A and Knarston, I.M and Tan, T.Y and Cameron, Fergus and Werther, G and Hutson, J and O'Connell, M and Grover, S.R and Heloury, Y and Zacharin, Margaret and Bergman, P and Kimber, C and Brown, J and Webb, N and Hunter, M.F and Shubha Srinivasan and Titmuss, A and Verge, C.F and Mowat, David and Smith, G and Smith, J and Ewans, L and Shalhoub, C and Crock, P and Cowell, C and Leong, G.M and Ono, M and Lafferty, A.R and Huynh, T and Visser, U and Choong, C.S and McKenzie, F and Pachter, N and Thompson, Elizabeth M and Couper, J and Baxendale, A and Gecz, Jozef and Wheeler, B.J and Jefferies, C and MacKenzie, K and Hofman, P and Carter, P and King, R.I and Krausz, Csilla and Ravenswaaij-Arts, Conny and Looijenga, Leendert and p, S and Riedl, S and Cools, Martine and Dawson, A and Juniarto, Achmad and Khadilkar, V and Khadilkar, A and Bhatia, V and DÅ©ng, V.C and Atta, I and Raza, J and thi Diem Chi, N and Hao, T.K and Harley, Vincent and Koopman, Peter and Warne, G and Faradz, Sultana and Oshlack, A and Ayers, K.L and Sinclair, Anew
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 243 - 243
Testis | Variant | Massively parallel sequencing | MPS | Cohort | Gonad | Disorders of sex development | Mutation | Ovaries | Ovotestes | Genetic diagnosis | Targeted gene panel | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Disorders of Sex Development - diagnosis | Genetic Predisposition to Disease | Ovary - pathology | Genetic Association Studies | Humans | Gonads - pathology | Male | Disorders of Sex Development - genetics | Mutation - genetics | Testis - growth & development | Ovary - growth & development | Genetic Variation | Phenotype | Testis - pathology | Disorders of Sex Development - pathology | Pedigree | Gonads - growth & development | Chromosome Aberrations | Female | High-Throughput Nucleotide Sequencing | Cohort Studies | Performance evaluation | Congenital diseases | Genes | Sex | Families & family life | Genomes | Patients | Genetic screening | Genetic counseling | Etiology | Infertility | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus
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6. Full Text The Diverse Genetic Landscape of Neurodevelopmental Disorders
by Hu, Wen F and Chahrour, Maria H and Walsh, Christopher A
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2014, Volume 15, Issue 1, pp. 195 - 213
somatic mutations | neurodevelopment | brain malformations | autism | Neurons - pathology | Microcephaly - genetics | Humans | Cerebral Cortex - pathology | Developmental Disabilities - genetics | Obesity - genetics | Cerebral Cortex - metabolism | Intellectual Disability - genetics | Developmental Disabilities - pathology | Microcephaly - pathology | Neurons - metabolism | Fingers - abnormalities | Malformations of Cortical Development - pathology | Child | Cytoskeleton - pathology | Muscle Hypotonia - genetics | Child Development Disorders, Pervasive - pathology | Cytoskeleton - genetics | Intellectual Disability - pathology | Myopia - pathology | Fingers - pathology | Malformations of Cortical Development - genetics | Obesity - pathology | Myopia - genetics | Muscle Hypotonia - pathology | Child Development Disorders, Pervasive - genetics | Alleles | Cerebral Cortex - growth & development | Genetic research | Nervous system | Degeneration | Genetic aspects | Research | Gene expression | Neurological research | Index Medicus
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7. Full Text The molecular genetics of Marfan syndrome and related disorders
by Robinson, P N and Arteaga-Solis, E and Baldock, C and Collod-Béroud, G and Booms, P and De Paepe, A and Dietz, H C and Guo, G and Handford, P A and Judge, D P and Kielty, C M and Loeys, B and Milewicz, D M and Ney, A and Ramirez, F and Reinhardt, D P and Tiedemann, K and Whiteman, P and Godfrey, M
Journal of medical genetics, ISSN 0022-2593, 10/2006, Volume 43, Issue 10, pp. 769 - 787
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Receptors, Transforming Growth Factor beta - genetics | Humans | Protein-Serine-Threonine Kinases | Databases, Genetic | Extracellular Matrix Proteins - physiology | Fibrillins | Protein Denaturation - genetics | Activin Receptors, Type I - genetics | Marfan Syndrome - genetics | Latent TGF-beta Binding Proteins - genetics | Contractile Proteins - physiology | Animals | Models, Biological | Models, Animal | Marfan Syndrome - complications | Mice | Microfibrils - metabolism | Microfilament Proteins - genetics | Genetic aspects | Gene mutations | Analysis | Marfan syndrome | Studies | Epidermal growth factor | Pathogenesis | Genes | Chemical bonds | Genetics | Extracellular matrix | Mutation | Index Medicus | Activin Receptors, Type I | Latent TGF-beta Binding Proteins | Marfan Syndrome | Life Sciences | Aortic Aneurysm, Thoracic | Extracellular Matrix Proteins | Microfilament Prot | Microfibrils | Aneurysm, Dissecting | Contractile Proteins | TGFβ | Review | fibrillin | microfibril
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