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1كتاب
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2
المؤلفون: Bryan D. Hall, Kenjiro Kosaki, Kenneth L. Jones
المصدر: American Journal of Medical Genetics. :33-36
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cubitus valgus, Intellectual Disability, Elbow Joint, medicine, Humans, Abnormalities, Multiple, Short philtrum, Child, Genetics (clinical), business.industry, Facies, Genetic Diseases, X-Linked, Unusual facies, medicine.disease, Pedigree, Developmental disorder, Downslanting palpebral fissures, Maternal Uncle, business, Multiple nevi, Mild microcephaly
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bc65a5d112e671f04ed1d45986be41
https://doi.org/10.1002/ajmg.a.20494 -
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المؤلفون: Shyam S. Agarwal, Shubha R. Phadke, Inusha Panigrahi
المصدر: Clinical Dysmorphology. 11:289-292
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Consanguineous family, Genes, Recessive, Consanguinity, Short stature, Pathology and Forensic Medicine, Ptosis, Intellectual Disability, Internal medicine, Intellectual disability, medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Genetics (clinical), Family Health, Polydactyly, business.industry, Pigmentary Retinopathy, General Medicine, medicine.disease, Endocrinology, Pediatrics, Perinatology and Child Health, Female, Downslanting palpebral fissures, Anatomy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1eae64b59ed7c347c28a0e7cb4dc99e
https://doi.org/10.1097/00019605-200210000-00011 -
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المؤلفون: Timothy A. Donlon, Jack Tarleton, Ron C. Michaelis, Steven A. Skinner, Richard J. Simensen, Mary C. Phelan, Bonné A. Lethco
المصدر: American Journal of Medical Genetics. 55:120-126
مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Locus (genetics), Biology, Diagnosis, Differential, Central nervous system disease, Chromosome 15, Gene mapping, Angelman syndrome, Happy puppet syndrome, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Chromosomes, Human, Pair 15, Chromosome Mapping, Infant, nutritional and metabolic diseases, medicine.disease, nervous system diseases, Child, Preschool, Face, Female, Downslanting palpebral fissures, Angelman Syndrome, Chromosome Deletion, medicine.symptom
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المؤلفون: Maria Ines Kavamura, Giovanni Neri
المصدر: Management of Genetic Syndromes
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Macrocephaly, Cardio facio cutaneous, Multiple congenital anomaly, RASopathy, medicine.disease, Dermatology, Costello syndrome, Medicine, Noonan syndrome, Downslanting palpebral fissures, Hypertelorism, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0a9baf46aa35685e66d445e32adea82
https://doi.org/10.1002/9780470893159.ch11 -
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المؤلفون: Christopher Cunniff
المصدر: Management of Genetic Syndromes
مصطلحات موضوعية: Microcephaly, 7-Dehydrocholesterol reductase, Polydactyly, Hypospadias, business.industry, Smith–Lemli–Opitz syndrome, Retrognathia, medicine, Downslanting palpebral fissures, Anatomy, medicine.disease, business, Prenatal growth deficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5dd204d5aa213d1d5659c3595a96e3a4
https://doi.org/10.1002/9780470893159.ch49 -
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المؤلفون: Christiane Zweier, Udo Trautmann, Anita Rauch, Arif B. Ekici
المصدر: European journal of medical genetics. 51(4)
مصطلحات موضوعية: Adult, Adolescent, Amino Acid Motifs, Biology, Facial Bones, Gene Duplication, Intellectual Disability, Gene duplication, Female patient, Genetics, medicine, Humans, Hypertelorism, Carp-shaped mouth, Genetics (clinical), Chromosome Aberrations, Karyotype, General Medicine, Syndrome, medicine.disease, Developmental disorder, Child, Preschool, Karyotyping, Downslanting palpebral fissures, Chromosomes, Human, Pair 6, Female, Joints, medicine.symptom, SNP array
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8دورية أكاديمية
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