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1
المؤلفون: Tuya Pal, John M. Graham, Ralph S. Lachman, David L. Rimoin, Alison M. Elliott, Cynthia J. Curry
المصدر: American Journal of Medical Genetics. 113:351-361
مصطلحات موضوعية: Adult, Adolescent, Craniofacial abnormality, Dwarfism, Osteochondrodysplasias, Short stature, Craniofacial Abnormalities, Diagnosis, Differential, Frontal Bossing, medicine, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical), business.industry, Anatomy, medicine.disease, Osteochondrodysplasia, Body Height, Spine, Radiography, Dysplasia, 3-M syndrome, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3de94c975af1845bc493e84487c80bTest
https://doi.org/10.1002/ajmg.b.10656Test -
2
المصدر: American Journal of Medical Genetics. 111:301-306
مصطلحات موضوعية: Adult, Male, Holt–Oram syndrome, Craniofacial abnormality, business.industry, Anatomy, Middle Aged, Oligodactyly, medicine.disease, Short stature, Osteochondrodysplasia, Body Height, Hypoplasia, Craniofacial Abnormalities, Frontal Bossing, medicine, Humans, Female, Upper Extremity Deformities, Congenital, medicine.symptom, Craniofacial, T-Box Domain Proteins, business, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf37b463fb356d945493e5e2ad21c765Test
https://doi.org/10.1002/ajmg.10596Test -
3
المؤلفون: Catherine D. Kashork, André Mégarbané, Bassem A. Bejjani, Martine Le Merrer, Sélim Jambart, Lisa G. Shaffer, Noëlle Souraty
المصدر: American Journal of Medical Genetics. 108:69-74
مصطلحات موضوعية: Monosomy, Pediatrics, medicine.medical_specialty, Clinodactyly, business.industry, Brachydactyly, Macrocephaly, Monozygotic twin, Respiratory infection, medicine.disease, Short stature, Frontal Bossing, Endocrinology, Internal medicine, medicine, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::03e431c0315168240811476f9ee57171Test
https://doi.org/10.1002/ajmg.10222Test -
4
المؤلفون: Shoji Yano, Yoriko Watanabe
المصدر: American Journal of Medical Genetics. 102:149-152
مصطلحات موضوعية: Male, medicine.medical_specialty, Cutis marmorata, Pediatrics, Cutis marmorata telangiectatica congenita, Sudden death, Craniofacial Abnormalities, Frontal Bossing, Internal medicine, Humans, Medicine, Abnormalities, Multiple, Telangiectasis, Hemihypertrophy, Growth Disorders, Genetics (clinical), business.industry, Macrocephaly, Infant, Cardiac arrhythmia, Arrhythmias, Cardiac, Syndrome, medicine.disease, Hypotonia, Endocrinology, Karyotyping, Skin Abnormalities, Female, Syndactyly, medicine.symptom, business, Sudden Infant Death
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0739e967661a40b0f82c83b0608ef1e7Test
https://doi.org/10.1002/ajmg.1428Test -
5
المؤلفون: David J. Amor, Agnes Bankier, Ravi Savarirayan, Adele Schneider
المصدر: American Journal of Medical Genetics. 92:273-277
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Dysostosis, Anatomy, medicine.disease, Osteochondrodysplasia, Craniosynostosis, Developmental disorder, Frontal Bossing, Osteogenesis imperfecta, medicine, Craniofacial, business, Cole Carpenter syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a31723c3cb2d3bb1b60e4fea1d6f3561Test
https://doi.org/10.1002Test/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t -
6
المؤلفون: James Crowe, Heather A. Cooper, Merlin G. Butler
المصدر: American Journal of Medical Genetics. 92:33-39
مصطلحات موضوعية: Spondyloepiphyseal dysplasia, Depressed nasal bridge, Ossification, business.industry, Scoliosis, Anatomy, medicine.disease, Short stature, Carpal bones, Frontal Bossing, medicine.anatomical_structure, Dysplasia, medicine, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::430a5c53f7b465e01a7e7ca17b92fc20Test
https://doi.org/10.1002Test/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u -
7
المؤلفون: Catherine Turleau, P. Gosset, Michel Vekemans, André Mégarbané, Jean-Michel Lapierre, Marguerite Prieur, Noëlle Souraty, Jacques Loiselet
المصدر: American Journal of Medical Genetics. 95:164-168
مصطلحات موضوعية: Hirsutism, Microcephaly, Biology, Chromosome Painting, Molecular cytogenetics, Frontal Bossing, Gene Duplication, Intellectual Disability, Gene duplication, medicine, Humans, Child, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Psychomotor retardation, Facies, Nucleic Acid Hybridization, Karyotype, Syndrome, medicine.disease, Narrow palate, Chromosome Banding, Phenotype, Karyotyping, Female, medicine.symptom, Chromosomes, Human, Pair 7, Microsatellite Repeats, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb99adcdb5deaaac0af9545a544602d2Test
https://doi.org/10.1002/1096-8628Test(20001113)95:2<164::aid-ajmg14>3.0.co;2-g -
8
المؤلفون: M. R. Verschraegen-Spae, Brenda Callens, Jules G. Leroy, Nadine Van Roy, Karel Logghe, Frank Speleman, Anna Jauch, Sharon W. Horsley
المصدر: American Journal of Medical Genetics. 93:349-354
مصطلحات موضوعية: Adult, Male, Chromosome 7 (human), Genetics, Infant, Newborn, Macrocephaly, Chromosome, Trisomy, Chromosomal translocation, Telomere, Biology, medicine.disease, Translocation, Genetic, Developmental disorder, Frontal Bossing, Phenotype, Chromosomes, Human, Pair 2, Gene duplication, medicine, Humans, Female, medicine.symptom, Chromosomes, Human, Pair 7, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82edbc3eda8b5b7cb5ec7ea50fa43297Test
https://doi.org/10.1002/1096-8628Test(20000828)93:5<349::aid-ajmg2>3.0.co;2-s -
9
المؤلفون: Jay K. Shah, Peter N. Ray, Donald T. Whelan, Marlene Huggins, John R. Smith, Kathy Chun
المصدر: American Journal of Medical Genetics. 84:396-400
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pregnancy, Pediatrics, biology, business.industry, Macrocephaly, Hypochondroplasia, Gibbus, medicine.disease, biology.organism_classification, Osteochondrodysplasia, Hypoplasia, Frontal Bossing, Endocrinology, Internal medicine, Medicine, medicine.symptom, Achondroplasia, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a19f62eb073051b904eeaef5f9563cacTest
https://doi.org/10.1002Test/(sici)1096-8628(19990611)84:5<396::aid-ajmg2>3.0.co;2-l -
10
المؤلفون: David Chitayat, Allen Gardner, Michael Sgro, Phyllis Glance, Peter N. Ray, Lori Moore, Dianne Allingham-Hawkins, Michael Dunn, Kathy Chun, Bridget A. Fernandez
المصدر: American Journal of Medical Genetics. 84:401-405
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Down syndrome, Pediatrics, medicine.diagnostic_test, business.industry, Hypochondroplasia, Prenatal diagnosis, medicine.disease, Compound heterozygosity, Osteochondrodysplasia, Frontal Bossing, Endocrinology, Internal medicine, medicine, Amniocentesis, Achondroplasia, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1fa2c06316ffc4bf05e705a030caef69Test
https://doi.org/10.1002Test/(sici)1096-8628(19990611)84:5<401::aid-ajmg3>3.0.co;2-c