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1
المؤلفون: Kristin Becker, Karol Howard, Derek Klazinga, Christine Hall
المصدر: Clinical Dysmorphology. 18:139-141
مصطلحات موضوعية: Adult, medicine.medical_specialty, Fistula, Uterus, Pelvis, Pathology and Forensic Medicine, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Leg, business.industry, Heart Septal Defects, Syndrome, General Medicine, Labia majora, Anatomy, Intestinal Duplication, medicine.disease, Hypoplasia, Surgery, medicine.anatomical_structure, Caudal duplication, Pediatrics, Perinatology and Child Health, Female, Imperforate anus, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c403255a5d74e32c7fddf3550cd4e6c3
https://doi.org/10.1097/mcd.0b013e32832d0703 -
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المؤلفون: H. E. Hughes, Karol Howard, Kristin Becker
المصدر: Clinical dysmorphology. 20(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adult male, DK phocomelia syndrome, Ectromelia, Choanal atresia, Choanal Atresia, Pathology and Forensic Medicine, Encephalocele, Moderate learning difficulties, medicine, Humans, Genetics (clinical), business.industry, Learning Disabilities, General Medicine, Syndrome, medicine.disease, Thrombocytopenia, Surgery, Phenotype, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20736bdcec6be8faf30b73771c471eb7
https://pubmed.ncbi.nlm.nih.gov/21358540 -
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المؤلفون: Michael A. Patton, H. E. Hughes, Marco Tartaglia, Maggie Armstrong, Edgar Janis Lazda, Kristin Becker, Karol Howard, Devender Roberts, John P. Short, Adam Shaw
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Adult, Male, Heterozygote, Gestational Age, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, medicine.disease_cause, Compound heterozygosity, Ultrasonography, Prenatal, Loss of heterozygosity, Fetus, Pregnancy, Genetics, medicine, Humans, Fetal Death, Genetics (clinical), Mutation, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, medicine.disease, Osteochondrodysplasia, PTPN11, Child, Preschool, Cancer research, Noonan syndrome, Early Fetal Death, Female, Protein Tyrosine Phosphatases