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1
المؤلفون: Georgianne Younger, Victoria M. Pratt, Kayla Treat, Francesco Vetrini, David D. Weaver, Ty C. Lynnes, Wilfredo Torres-Martinez
المصدر: American Journal of Medical Genetics Part A. 182:2501-2507
مصطلحات موضوعية: Rib cage, Pathology, medicine.medical_specialty, business.industry, Unilateral cryptorchidism, medicine.disease, Hypotonia, Agenesis, Genetics, Etiology, Medicine, Missense mutation, medicine.symptom, Single Palmar Crease, business, Genetics (clinical), Septum pellucidum
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2
المؤلفون: Hinh Duc Nguyen, Nhung Phuong Dinh, Huong Thi Thu Han, Lien Thi Ha, Hoa Thi Phuong Bui, Huong Thi Thanh Tran, Quy Van Hoang, Ha Thi Thanh Ly, Hung Van Nguyen, Tu Ngoc Nguyen, Huyen Thi Thanh Tran
المصدر: Biomedical Journal of Scientific & Technical Research. 36
مصطلحات موضوعية: Down syndrome, medicine.medical_specialty, Complete atrioventricular septal defect, business.industry, Internal medicine, Sex chromosomal abnormalities, medicine, Cardiology, General Medicine, Klinefelter syndrome, medicine.disease, Single Palmar Crease, business
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3
المؤلفون: Ali Nikfar, Mojdeh Mansouri, Gita Fatemi Abhari
المصدر: Acta Medica Iranica, Vol 57, Iss 8 (2020)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Down syndrome, lcsh:R5-920, Nasal bridge, business.industry, Genetic counseling, Robertsonian translocation, Intellectual disability, Mental retardation, General Medicine, medicine.disease_cause, medicine.disease, Short stature, Hypotonia, t21q: 21q, medicine, De novo, medicine.symptom, Single Palmar Crease, Trisomy, business, lcsh:Medicine (General)
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4Academic Journal
المؤلفون: Ahmet, D, Bahri, E, Mustafa, A, Varim, N, Tunc, T
المساهمون: Ahmet, D, Bahri, E, Mustafa, A, Varim, N, Tunc, T, Zonguldak Bülent Ecevit Üniversitesi
مصطلحات موضوعية: alobar holoprosencephaly, hypoplastic left heart, hypotelorism, duodenal stenosis, microphthalmia, single palmar crease, cebocephaly, high palate, postaxial polydactyly, atrial septal defect
Relation: CLINICAL DYSMORPHOLOGY; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; 41; 42; 15; https://dx.doi.org/10.1097/01.mcd.0000184970.91904.fd; https://hdl.handle.net/20.500.12628/3193
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المؤلفون: Felicia Lam, Colleen A. Morris
المصدر: American Journal of Medical Genetics Part A. 170:3013-3017
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Pediatrics, medicine.medical_specialty, Chromosome Disorders, 030105 genetics & heredity, Biology, Growth hormone deficiency, 03 medical and health sciences, Intellectual disability, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), Human growth hormone, Brachydactyly, Facies, Chromosome, medicine.disease, Phenotype, Chromosomes, Human, Pair 1, Sensorineural hearing loss, Chromosome Deletion, Single Palmar Crease
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المؤلفون: Andreas Tzschach, W. Hachmann, C Jensen, Magdalena Nawara, Jarosław Poznański, K. Kahrizi, Jerzy Bal, Vera M. Kalscheuer, M Bienek, Andreas Dufke, H. Enders, Johannes R. Lemke, Monika Gos, T. Chilarska, Dorota Hoffman-Zacharska, Agnieszka Charzewska, Hossein Najmabadi, Barbara Oehl-Jaschkowitz, R. Maiwald, Ewa Obersztyn
المصدر: Clinical Genetics: an international journal of genetics in medicine
مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Genotype, FG syndrome, X-linked intellectual disability, Protein Conformation, Mutation, Missense, Biology, MED12, 03 medical and health sciences, Structure-Activity Relationship, Lujan–Fryns syndrome, Genes, X-Linked, X Chromosome Inactivation, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), X chromosome, Alleles, Genetic Association Studies, Mediator Complex, Facies, Genetic Variation, medicine.disease, Genetic architecture, Pedigree, 030104 developmental biology, Phenotype, Amino Acid Substitution, Female, Single Palmar Crease
وصف الملف: application/pdf
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7
المؤلفون: Jayanthy Ramesh, Babulreddy Hanmayyagari, Mounika Guntaka
المصدر: CHRISMED Journal of Health and Research, Vol 2, Iss 4, Pp 356-359 (2015)
مصطلحات موضوعية: lcsh:RT1-120, Pediatrics, medicine.medical_specialty, Clinodactyly, Maxillary hypoplasia, lcsh:Nursing, business.industry, Genetic counseling, lcsh:R, Shawl scrotum, lcsh:Medicine, clinodactyly, General Medicine, medicine.disease, Short stature, short stature, Aarskog Syndrome, medicine, medicine.symptom, shawl scrotum, Aarskog–Scott syndrome, Single Palmar Crease, business
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8
المؤلفون: Eva Gauchan, Tejesh Malla, KK Malla, R Sharma, S Brijesh
المصدر: Kathmandu University Medical Journal. 8:410-414
مصطلحات موضوعية: Male, medicine.medical_specialty, Down syndrome, Pediatrics, Adolescent, Population, Simian, Asian People, Nepal, Humans, Outpatient clinic, Medicine, Dermatoglyphics, Child, Prospective cohort study, education, Retrospective Studies, education.field_of_study, biology, business.industry, Incidence, Incidence (epidemiology), General Medicine, biology.organism_classification, medicine.disease, Surgery, Child, Preschool, Female, Down Syndrome, business, Single Palmar Crease, Follow-Up Studies
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9
المصدر: American Journal of Medical Genetics Part A. :1200-1204
مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Developmental Disabilities, Hyperkinesis, Chromosome aberration, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Otitis, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Language Disorders, business.industry, Breakpoint, Nucleic Acid Hybridization, Chromosome Breakage, Syndrome, Anatomy, Microdeletion syndrome, medicine.disease, Motor Skills Disorders, Developmental disorder, Muscle Hypotonia, Autism, Female, Sacral dimple, Chromosome Deletion, Chromosome breakage, Single Palmar Crease, business, Chromosomes, Human, Pair 16
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المؤلفون: Sigrid Tinschert, W. Werner, Anja Matthaei, Konrad Oexle, Klaus G. Hinkel, Oliver Bartsch, Inna Nitz, Andreas Rump, Evelin Schröck, Eva-Maria Gerlach, Ulrike Koerner, Alexander Herr
المصدر: European Journal of Medical Genetics. 48:328-338
مصطلحات موضوعية: Male, Chromosomes, Artificial, Bacterial, congenital, hereditary, and neonatal diseases and abnormalities, Limb Deformities, Congenital, Telecanthus, Biology, Translocation, Genetic, Spina bifida occulta, Genetics, medicine, Humans, Syndactyly, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Spectral Karyotyping, Brachydactyly, Karyotype, General Medicine, medicine.disease, Hypoplasia, body regions, Child, Preschool, Chromosomal region, Single Palmar Crease, Chromosomes, Human, Pair 16
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11
المؤلفون: Veronica F. Sullins, Steven L. Lee, Ziyad Jabaji
المصدر: Surgery ISBN: 9781493917259
مصطلحات موضوعية: Polyhydramnios, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Physical examination, Distension, medicine.disease, Surgery, Duodenal atresia, medicine.anatomical_structure, Meconium, medicine, Abdomen, business, Imperforate anus, Single Palmar Crease
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12
المؤلفون: Maria Rosa Zamperetti, Lerica Germi, Donatella Schena, Silvia Giacopuzzi, Giampiero Girolomoni, Francesca Darra
المصدر: Pediatric Dermatology. 24:E73-E75
مصطلحات موضوعية: Neurofibromatosis 1, Uncombable hair syndrome, Hair shaft, Uncombable hair, Dermatology, Intellectual Disability, medicine, Humans, Dermatoglyphics, Neurofibromatosis type I, integumentary system, Palate, business.industry, Facies, Anatomy, medicine.disease, Trunk, Molecular analysis, medicine.anatomical_structure, Child, Preschool, Scalp, Pediatrics, Perinatology and Child Health, Female, Hair Diseases, business, Single Palmar Crease, Hair
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13
المؤلفون: H. Stalewski, A. Lee-Tannock, Sanjay Patole, John Whitehall, A. Murphy, R. Almonte
المصدر: American Journal of Perinatology. 15:53-56
مصطلحات موضوعية: Adult, Male, Meconium, Thorax, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.medical_treatment, Diaphragmatic breathing, Chromosome Disorders, Peritonitis, Thoracic Diseases, Pregnancy, Laparotomy, Foramen, Humans, Medicine, Ultrasonography, Chromosome Aberrations, Hernia, Diaphragmatic, Cesarean Section, Ileal Diseases, business.industry, Meconium peritonitis, Infant, Newborn, Calcinosis, Obstetrics and Gynecology, Anatomy, medicine.disease, Hypotonia, Surgery, Intestinal Perforation, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Tomography, X-Ray Computed, business, Single Palmar Crease
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14
المؤلفون: G. Wakim, André Mégarbané, K. Tomey
المصدر: American Journal of Medical Genetics. 73:67-71
مصطلحات موضوعية: Prominent forehead, business.industry, Anatomy, medicine.disease, Anterior fontanelle, body regions, Palpebral fissure, medicine.anatomical_structure, Pectus excavatum, Gingival Hypertrophy, Dysplasia, Medicine, Hypertelorism, medicine.symptom, business, Single Palmar Crease, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aa072020b46da30f7fe3b1a48ec9ba18
https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<67::aid-ajmg13>3.0.co;2-p -
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المؤلفون: Ian D. Young, P. J. Morrison, N. M. Smith, K. E. Martin
المصدر: American Journal of Medical Genetics. 68:50-53
مصطلحات موضوعية: In situ, Partial Trisomy, Ring chromosome, medicine, Chromosome, Karyotype, Biology, Trisomy, medicine.disease, Single Palmar Crease, Fluorescence, Molecular biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1ffa845da157f5e0aa7fb333a5249f31
https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<50::aid-ajmg9>3.0.co;2-1 -
16
المؤلفون: AS Griffiths, K McCarthy, Naomi McCallion
المصدر: Archives of Disease in Childhood. 101:A284.2-A285
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, Down syndrome, Pathology, business.industry, Population, Aneuploidy, medicine.disease, Hypotonia, Pediatrics, Perinatology and Child Health, Turner syndrome, medicine, medicine.symptom, Single Palmar Crease, education, Trisomy, business, Low-set ears
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المؤلفون: Ramanathan Sathyamoorthy, Subramaniam Ranugha, Rengasamy Sureshbabu, Paquirissamy Oudeacoumar, Carounanidy Udayashankar, Rashmi Kumari
المصدر: Sureshbabu, Rengasamy; Kumari, Rashmi; Ranugha, Subramaniam; Sathyamoorthy, Ramanathan; Udayashankar, Carounanidy; & Oudeacoumar, Paquirissamy. (2011). Phenotypic and dermatological manifestations in Down Syndrome. Dermatology Online Journal, 17(2). Retrieved from: http://www.escholarship.org/uc/item/8jx5f2v2
Scopus-Elsevierمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Down syndrome, Clinodactyly, Adolescent, Foot Deformities, Congenital, India, Dermatology, Skin Diseases, Craniofacial Abnormalities, Young Adult, Skin fold, Tongue, medicine, Humans, Child, Tongue, Fissured, business.industry, Lichenification, Infant, General Medicine, Alopecia areata, medicine.disease, Phenotype, medicine.anatomical_structure, Child, Preschool, Female, Down Syndrome, medicine.symptom, business, Single Palmar Crease, Hand Deformities, Congenital, Fissured tongue
وصف الملف: application/pdf
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المؤلفون: Justin C. Brown, Phil Bergman, George Mc Gillivray, Atul Malhotra
المصدر: Journal of Pediatric Endocrinology and Metabolism. 24
مصطلحات موضوعية: Male, endocrine system, Pathology, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Thyroid function tests, Endocrinology, Congenital Hypothyroidism, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Newborn screening, Polydactyly, medicine.diagnostic_test, business.industry, Infant, Newborn, Karyotype, medicine.disease, Congenital hypothyroidism, Chromosome 3, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 3, Chromosome Deletion, medicine.symptom, business, Single Palmar Crease
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المؤلفون: Joseph D. Buxbaum, Catalina Betancur, Alisa Nakamine, Hakon Hakonarson, Lisa Edelmann, Elina R Manghi, Marietha Fallas, Patricia Jiménez González, Tracy Brandt, Joseph T. Glessner, L. Alison McInnes, Marion Pilorge
المساهمون: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Department of Genetics and Genomic Sciences, Laboratory of Molecular Neuropsychiatry, Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Child Developmental and Behavioral Unit, Hospital Nacional de Niños Dr Sáenz Herrera, Department of Disability and Human Development, University of Illinois [Chicago] (UIC), University of Illinois System-University of Illinois System, The Charles R. Bronfman Institute for Personalized Medicine, The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Department of Neuroscience, This work was supported by NINDS (LAM, grant R01 043540), the Seaver Foundation (LAM and JDB) and a grant from the General Clinical Research Center at the Mount Sinai School of Medicine, and by the Seed Grant Program of The Charles R. Bronfman Institute for Personalized Medicine. The microarray work and analysis of the Costa Rican sample were supported by grant U24 NS 052108., BMC, Ed.
المصدر: Molecular Autism
Molecular Autism, BioMed Central, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, 2010, 1 (5), 12 p. ⟨10.1186/2040-2392-1-5⟩
Molecular Autism, Vol 1, Iss 1, p 5 (2010)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Intellectual disability, medicine, Copy-number variation, Hypertelorism, Molecular Biology, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, Research, Low copy repeats, medicine.disease, Hypotonia, Psychiatry and Mental health, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Autism, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine.symptom, business, Single Palmar Crease, 030217 neurology & neurosurgery, Developmental Biology, Comparative genomic hybridization
وصف الملف: application/pdf
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المؤلفون: D. L. Van Dyke, Jacquelyn Roberson, M Witt, Maria J. Worsham, D A Miller, Anne E. Wiktor, Lester Weiss, C G Palmer, V R Babu
المصدر: American Journal of Medical Genetics. 43:996-1005
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, X Chromosome, Adolescent, Ring chromosome, Turner Syndrome, Gonadal dysgenesis, Biology, X-inactivation, Dosage Compensation, Genetic, Intellectual Disability, Internal medicine, Turner syndrome, medicine, Humans, Ring Chromosomes, Child, Strabismus, Genetics (clinical), X chromosome, Middle Aged, medicine.disease, Phenotype, Endocrinology, Child, Preschool, Female, Sacral dimple, Single Palmar Crease