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1
المصدر: Journal of Child Neurology. 9:135-138
مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Adolescent, Hydrocortisone, Achalasia, Very long chain, Biology, Alacrima, Electron Transport, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Adrenal insufficiency, Humans, Child, Fatty Acids, Lacrimal Apparatus, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Hypoglycemia, Enzymes, Mitochondria, Muscle, Esophageal Achalasia, Muscular Atrophy, Mitochondrial respiratory chain enzymes, Endocrinology, Peripheral neuropathy, Pediatrics, Perinatology and Child Health, Female, Adrenoleukodystrophy, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Adrenal Insufficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb954a65711c3a617a765a6d8384b8e0
https://doi.org/10.1177/088307389400900206 -
2
المؤلفون: David L. Rimoin, Juan F. Sotos, Jonathan Zonana, Delbert A. Fisher, Carolyn A. Romshe, M. Jocelyn Elders
المصدر: The Journal of Pediatrics. 91:251-256
مصطلحات موضوعية: Adult, Male, Adolescent, Biology, Gigantism, Pathogenesis, Craniosynostoses, Genetic etiology, Intellectual Disability, medicine, Humans, Genes, Dominant, Genetics, Skull, Inheritance (genetic algorithm), Infant, medicine.disease, Pedigree, Accelerated Growth, Child, Preschool, Pediatrics, Perinatology and Child Health, Prognathism, Etiology, Trait, Female, Dominant inheritance
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3
المؤلفون: Carolyn A. Romshe, Juan F. Sotos, Edward A. Cutler, John M. Opitz
المصدر: American Journal of Medical Genetics. 2:201-205
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Cephalometry, media_common.quotation_subject, Primary hypothyroidism, Infant, Syndrome, Biology, medicine.disease, Gigantism, Phenotype, Endocrinology, Pleiotropy (drugs), Hypothyroidism, Internal medicine, medicine, Humans, Kocher–Debre–Semelaigne syndrome, Female, Girl, Genetics (clinical), media_common
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4
المؤلفون: Carolyn A. Romshe
المصدر: The Journal of Pediatrics. 83:1088-1090
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Holoprosencephaly, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Pituitary dysfunction, business, medicine.disease
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5
المؤلفون: James S. Miser, Juan F. Sotos, Angela W. Miser, William B. Zipf, William A. Newton, Carolyn A. Romshe
المصدر: The Journal of pediatrics. 104(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Arginine, Adolescent, medicine.medical_treatment, Central nervous system, Stimulation, Peptide hormone, Short stature, Internal medicine, medicine, Humans, Child, Radiation Injuries, Growth Disorders, business.industry, Brain Neoplasms, Brain, Bone age, Leukemia, Lymphoid, Radiation therapy, medicine.anatomical_structure, Endocrinology, Child, Preschool, Growth Hormone, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Hormone
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6
المؤلفون: H J McClung, Milo D. Hilty, Earl S. Sherard, Ralph E. Haynes, Carolyn A. Romshe
المصدر: The Journal of pediatrics. 94(4)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, Biopsy, Population, Human leukocyte antigen, Incubation period, Chickenpox, HLA Antigens, Medicine, Humans, Reye Syndrome, education, Child, Respiratory Tract Infections, education.field_of_study, Respiratory tract infections, business.industry, Incidence (epidemiology), medicine.disease, Liver, Genetic marker, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Female, business
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7
المؤلفون: Carolyn A. Romshe, Juan F. Sotos
المصدر: The Journal of pediatrics. 86(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Hydrocortisone, medicine.drug_class, Radioimmunoassay, Puberty, Precocious, Thyrotropin, Chorionic Gonadotropin, Human chorionic gonadotropin, Pregnancy, Internal medicine, medicine, Precocious puberty, Humans, Testosterone, Choriocarcinoma, Child, Hydroxysteroids, Progesterone, medicine.diagnostic_test, business.industry, Luteinizing Hormone, medicine.disease, 17-Ketosteroids, Thyroxine, Endocrinology, Immunoassay, Pediatrics, Perinatology and Child Health, Female, Gonadotropin, Follicle Stimulating Hormone, business, Cerebral Ventricle Neoplasms, Hormone
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المؤلفون: David M. Wilson, Charles J. Rebouche, Andrew G. Engel, Carolyn A. Romshe, Robert P. Cruse, Allen M. Glasgow
المصدر: Neurology. 31(7)
مصطلحات موضوعية: Free carnitine, Male, medicine.medical_specialty, business.industry, Kidney metabolism, Infant, Kidney, Excretion, Endocrinology, Excretory system, Normal muscle, High plasma, Internal medicine, Carnitine, Child, Preschool, medicine, Humans, Female, Neurology (clinical), business, Child, Tubular secretion, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d187edffabdf6284aba53fe970822a70
https://pubmed.ncbi.nlm.nih.gov/7195503 -
9
المصدر: The Journal of pediatrics. 98(5)
مصطلحات موضوعية: Mycobacterium kansasii, biology, business.industry, Reye Syndrome, biology.organism_classification, medicine.disease, Congenital hypothyroidism, Ornithine Carbamoyltransferase Deficiency Disease, Mycobacterium tuberculosis, Diagnosis, Differential, Chronic granulomatous disease, Biochemistry, Immunity, Carnitine, Pediatrics, Perinatology and Child Health, Immunology, medicine, Humans, Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing), Dysgammaglobulinemia, Amino Acids, business, Mycobacterium
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10
المصدر: Journal of pediatric surgery. 16(1)
مصطلحات موضوعية: Liver Cirrhosis, Male, medicine.medical_specialty, Cirrhosis, medicine.medical_treatment, Splenectomy, Hypersplenism, alpha 1-Antitrypsin Deficiency, Hypertension, Portal, medicine, Humans, Portasystemic Shunt, Surgical, Sinusitis, Contraindication, Alpha 1-antitrypsin deficiency, business.industry, Infant, Newborn, General Medicine, medicine.disease, Surgery, Pedigree, Diarrhea, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Portal hypertension, Female, Headaches, medicine.symptom, business, Splenorenal Shunt, Surgical