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المؤلفون: Carlo Marcelis, Rolph Pfundt, Bart C.W. Kuipers, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout
المصدر: Clinical Dysmorphology, 22, 1, pp. 18-21
Clinical Dysmorphology, 22, 18-21مصطلحات موضوعية: Male, Candidate gene, Prominent forehead, Haploinsufficiency, GPI-Linked Proteins, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Short philtrum, Dysmorphic facial features, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, business.industry, Neuropeptides, Infant, General Medicine, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], DNA-Binding Proteins, Feeding problems, Facial Asymmetry, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 6, Female, Syndactyly, Anatomy, Chromosome Deletion, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8c255dfe5b4731ba8b6b01e58a866eTest
https://doi.org/10.1097/mcd.0b013e32835b6e39Test -
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المؤلفون: Yvette R. Johnson, Zsolt Urban, Lorraine Potocki, Ron A. Wevers, Pasquale Piccolo, Eva Morava, Megan McGuirk, Megan K. Dishop, Nicola Brunetti-Pierri
المساهمون: BRUNETTI PIERRI, Nicola, Piccolo, P, Morava, E, Wevers, Ra, Mcguirk, M, Johnson, Yr, Urban, Z, Dishop, Mk, Potocki, L.
المصدر: Clinical Dysmorphology, 20, 2, pp. 77-81
Clinical Dysmorphology, 20, 77-81مصطلحات موضوعية: Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Hypertension, Pulmonary, α2 subunit, Neuroinformatics [DCN 3], Cutis Laxa, Oligohydramnios, Article, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Fatal Outcome, Pregnancy, Cryptorchidism, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Fetal Growth Retardation, business.industry, Infant, Newborn, Inelastic skin, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Euthanasia, Passive, Pulmonary hypertension, Molecular analysis, Withholding Treatment, Pediatrics, Perinatology and Child Health, Female, Anatomy, Perception and Action Glycostation disorders [DCN 1], business, Hernia, Umbilical, Cutis laxa
وصف الملف: Print; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ef4ea1e89c3334e7375d9542149979Test
https://doi.org/10.1097/mcd.0b013e3283439676Test -
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المؤلفون: Carlo Marcelis, Frits A. Beemer, Paul N.M.A. Rieu, Han G. Brunner
المصدر: Clinical Dysmorphology, 16, 2, pp. 73-6
Clinical Dysmorphology, 16, 73-6مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], Anal Canal, Genome, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Distal phalangeal hypoplasia, Finger Phalanges, Epilepsy, Fatal Outcome, Intellectual Disability, Humans, Medicine, Child, Genetics (clinical), Genetic testing, Genetics, Linkage (software), Anteriorly displaced anus, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, business.industry, Siblings, Infant, Chromosome, General Medicine, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Pediatrics, Perinatology and Child Health, Etiology, Female, Anatomy, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::687a62a125b3b1fd2a33f48f76e50f6eTest
https://doi.org/10.1097/mcd.0b013e3280147130Test -
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المؤلفون: Ernie M.H.F. Bongers, Lambert P. van den Heuvel, L.T.L. Sie, Wolfram Kress, Richard J. Rodenburg, Han G. Brunner, Eva Morava
المصدر: Clinical Dysmorphology, 16, 131-4
Clinical Dysmorphology, 16, 2, pp. 131-4مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Translational research [ONCOL 3], Mitochondrial Encephalomyopathies, Internal medicine, Humans, Medicine, Genetics (clinical), Renal disorder [IGMD 9], Genome, Human, business.industry, Infant, Nucleic Acid Hybridization, Tall Stature, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Body Height, Optic Atrophy, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9188307b84d57014c2f714e0baf3b86bTest
https://doi.org/10.1097/mcd.0b013e328014715eTest -
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المؤلفون: Andreas Müller, Nicole W. Mora, Iris A.L.M. van Rooij, Christoph Berg, Heiko Reutter, Alina C. Hilger, Benjamin D. Solomon, Rüdiger Stressig, Gabriel C. Dworschak, Charlotte H. W. Wijers, Markus Draaken, J. Ritgen, Daniel E. Pineda-Alvarez, Markus M. Nöthen, Michael Ludwig, Eberhard Schmiedeke, Ulrich Gembruch, Per Hoffmann, Manuel Mattheisen, Friederike Baudisch, Carlo M. Marcelis, Enrika Bartels, Peter Bartmann, Anna Carina Schulz, Annegret Geipel, Soyhan Bagci
المصدر: Clinical Dysmorphology, 21, 4, pp. 191-195
Clinical Dysmorphology, 21, 191-195مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Concordance, Vertebral anomalies, Article, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Anus, Imperforate, Esophagus, Diseases in Twins, Twins, Dizygotic, Medicine, Humans, Genetics (clinical), Gynecology, business.industry, VATER/VACTERL ASSOCIATION, Congenital malformations, General Medicine, Twins, Monozygotic, Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, Twin study, VACTERL association, Zygosity, Confidence interval, Spine, Surgery, Trachea, Radius, Human Reproduction Renal disorder [NCEBP 12], Pediatrics, Perinatology and Child Health, Anatomy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc83af8c708761d4c299c021100ef924Test
https://pubmed.ncbi.nlm.nih.gov/22895008Test -
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المساهمون: Amsterdam Neuroscience, Other Research, Human Genetics, Paediatric Genetics
المصدر: Clinical Dysmorphology, 22, 106-8
Clinical dysmorphology, 22(3), 106-108. Lippincott Williams and Wilkins
Clinical Dysmorphology, 22, 3, pp. 106-8مصطلحات موضوعية: Male, Split-Hand/Foot Malformation Type 3, Genetics and epigenetic pathways of disease [NCMLS 6], Base Sequence, Foot Deformities, Congenital, Chromosomes, Human, Pair 10, business.industry, Limb Deformities, Congenital, Sequence Analysis, DNA, General Medicine, Anatomy, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Polydactyly, Gene Duplication, Pediatrics, Perinatology and Child Health, Humans, Medicine, business, Hand Deformities, Congenital, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9b51a3fc8bb5f336925253123928cfTest
https://doi.org/10.1097/mcd.0b013e328363025cTest -
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المؤلفون: Wilhelmina S. Kerstjens-Frederikse, Jayne Y. Hehir-Kwa, Han G. Brunner, Rolph Pfundt, Marjolijn C.J. Jongmans
المصدر: Clinical dysmorphology, 19(1), 30-32. LIPPINCOTT WILLIAMS & WILKINS
Clinical Dysmorphology, 19, 1, pp. 30-2
Clinical Dysmorphology, 19, 30-2مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Genes, Recessive, Mandible, Choanal atresia, Short stature, Choanal Atresia, Syngnathia, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Maxilla, medicine, Humans, Abnormalities, Multiple, Growth Disorders, Genetics (clinical), Chromosomes, Human, X, business.industry, Brachydactyly, Infant, Syndrome, General Medicine, Hand Deformities, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94eee8130b3326ee5036df16f36e61f1Test
https://doi.org/10.1097/mcd.0b013e32832d0650Test -
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المؤلفون: Mariken Ruiter, Erik-Jan Kamsteeg, Germana Meroni, Bert B.A. de Vries
المساهمون: Ruiter, Marikena, Kamsteeg, Erik Jana, Meroni, Germana, de Vries, Bert B. A.
المصدر: Clinical Dysmorphology, 19, 4, pp. 195-7
Clinical Dysmorphology, 19, 195-7مصطلحات موضوعية: Male, medicine.medical_specialty, Ubiquitin-Protein Ligases, Mutation, Missense, Opitz Syndrome, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Esophagus, MID1 gene, Internal medicine, medicine, Missense mutation, Humans, Hypertelorism, Gene, Genetics (clinical), Loss function, Genetics, Chromosomes, Human, X, Hypospadias, business.industry, MID1 gene, Mutations, Opitz Syndrome, Infant, Nuclear Proteins, Genetic Diseases, X-Linked, General Medicine, Opitz G/BBB Syndrome, medicine.disease, Penetrance, Magnetic Resonance Imaging, Endocrinology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Microtubule Proteins, Female, Anatomy, medicine.symptom, business, Mutations, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eebc67362c07ecd8b21c17e00ad05352Test
https://hdl.handle.net/2066/89543Test -
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المؤلفون: Martin Poot, Dick Lindhout, Onno van Nieuwenhuizen, Ron Hochstenbach, Anneke I. den Hollander, Dorien Lugtenberg, Rutger A.J. Nievelstein, Hester Y. Kroes
المصدر: Clinical Dysmorphology, 20, 136-42
Clinical Dysmorphology, 20, 3, pp. 136-42مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Methyl-CpG-Binding Protein 2, Polymorphism, Single Nucleotide, Joubert syndrome, Retina, Pathology and Forensic Medicine, Cerebellar Diseases, Cerebellum, Gene duplication, medicine, Humans, Abnormalities, Multiple, MECP2 gene, Eye Abnormalities, Stage (cooking), Diagnostic Errors, Genetics (clinical), Chromosome Aberrations, Chromosomes, Human, X, Chromosomes, Human, Pair 13, business.industry, Infant, General Medicine, Kidney Diseases, Cystic, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Phenotype, Breathing abnormalities, Chromosomes, Human, Pair 1, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Critical assessment, Anatomy, medicine.symptom, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Mri findings
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad707b9774a38bd5779d6e163cceaa7aTest
https://pubmed.ncbi.nlm.nih.gov/21527849Test
