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المؤلفون: John S. Parks, Barry H. Rich, David L. Hurley, Matthew E. Adess, Thomas C. VanderHeyden, Milton R. Brown, Ty C. Voss, Ira M. Rosenthal
المصدر: Hormone Research in Paediatrics. 49:98-102
مصطلحات موضوعية: Male, Heterozygote, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, medicine.disease_cause, Compound heterozygosity, Polymerase Chain Reaction, Endocrinology, Hypothyroidism, Thyroid-stimulating hormone, Internal medicine, medicine, Central hypothyroidism, Humans, Missense mutation, Allele, Alleles, Genetics, Mutation, Point mutation, Infant, Exons, DNA-Binding Proteins, Thyroxine, Phenotype, Growth Hormone, Pediatrics, Perinatology and Child Health, Transcription Factor Pit-1, hormones, hormone substitutes, and hormone antagonists, Transcription Factors
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المؤلفون: Ira M. Rosenthal, David A. Ehrmann, Robert L. Rosenfield, Leona Cuttler, José F. Cara, Randall B. Barnes, Lynne L. Levitsky
المصدر: The Journal of Clinical Endocrinology & Metabolism. 79:1328-1333
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Hydrolases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Adrenal Gland Diseases, Adrenal Gland Neoplasms, Biochemistry, Dexamethasone, Nafarelin, Endocrinology, Internal medicine, medicine, Humans, Adrenocortical carcinoma, Testosterone, Congenital adrenal hyperplasia, Ovarian Diseases, Child, Sex Characteristics, business.industry, Virilization, Biochemistry (medical), Hyperandrogenism, Luteinizing Hormone, medicine.disease, Neurosecretory Systems, Virilism, Female, Hypothalamic pituitary axis, medicine.symptom, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9072c929d7893abdcd0ff63cf94b247
https://doi.org/10.1210/jcem.79.5.7962325 -
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المصدر: Journal of Pediatric Surgery. 29:61-65
مصطلحات موضوعية: Anti-Mullerian Hormone, Male, endocrine system, medicine.medical_specialty, Disorders of Sex Development, Uterus, Hernia, Inguinal, Internal medicine, Cryptorchidism, Methods, medicine, Humans, Codon, Mullerian Ducts, Cervix, Glycoproteins, Fetus, urogenital system, business.industry, Myometrium, Infant, General Medicine, medicine.disease, Molecular Abnormality, Growth Inhibitors, female genital diseases and pregnancy complications, Testicular Hormones, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, Persistent Müllerian duct syndrome, Male pseudohermaphroditism, Surgery, Abnormality, business
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المؤلفون: Linda Riddick, Michell Wang, Songya Pang, Sue Jeffries, Marc Wiegensberg, Anastasia Clark, Margaret H. MacGillivray, Ira M. Rosenthal
المصدر: The Journal of Clinical Endocrinology & Metabolism. 73:166-174
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Cortodoxone, Clinical Biochemistry, Biochemistry, Dexamethasone, chemistry.chemical_compound, Endocrinology, Internal medicine, Adrenal Glands, Blood plasma, Hydroxyprogesterones, medicine, Humans, Testosterone, Congenital adrenal hyperplasia, Circadian rhythm, Androstenedione, Child, Adrenal Hyperplasia, Congenital, business.industry, 17-alpha-Hydroxyprogesterone, Biochemistry (medical), Obstetrics and Gynecology, General Medicine, 3α-Androstanediol, Androgen, medicine.disease, Androstane-3,17-diol, 17-Ketosteroids, Circadian Rhythm, Androgen secretion, chemistry, Child, Preschool, Androgens, Female, business, Hormone, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07020bfcfb74d31044ee6ffc5d399f15
https://doi.org/10.1210/jcem-73-1-166 -
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المؤلفون: Ira M. Rosenthal, Reuben Matalon, Peggy Supple, Herman Wyandt
المصدر: American Journal of Medical Genetics. 36:381-385
مصطلحات موضوعية: Adult, Chromosome Aberrations, Chromosomes, Human, Pair 14, Male, Genetics, Chromosomes, Human, Pair 21, Mosaicism, Ring chromosome, Chromosome, Karyotype, Chromosomal translocation, Syndrome, Biology, Ring (chemistry), Translocation, Genetic, Chromosome Banding, Child, Preschool, Intellectual Disability, Karyotyping, Humans, Female, Chromosome 21, Genetics (clinical)
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المؤلفون: Samuel Refetoff, Ira M. Rosenthal, Sissy M. Jhiang, Joachim Pohlenz, Roy E. Weiss, Charles F. Burant
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Sodium-iodide symporter, Male, medicine.medical_specialty, Heterozygote, DNA, Complementary, RNA Splicing, Xenopus, Nonsense mutation, Thyroid Gland, Gene Expression, Biology, DNA, Antisense, Frameshift mutation, Hypothyroidism, Internal medicine, medicine, Congenital Hypothyroidism, Missense mutation, Animals, Humans, Point Mutation, Iodide transport, Lymphocytes, Transversion, Child, Frameshift Mutation, Alleles, Cells, Cultured, Sequence Deletion, Symporters, Point mutation, Membrane Proteins, General Medicine, DNA, Exons, Molecular biology, Stop codon, Pedigree, Endocrinology, Amino Acid Substitution, COS Cells, Codon, Terminator, RNA, Female, Carrier Proteins, Research Article, Plasmids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a446422958d668f408dd2a299ea0214
https://europepmc.org/articles/PMC508654/ -
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المؤلفون: Barry H. Rich, Samuel Refetoff, Ira M. Rosenthal, Thongkum Sunthornthepvarakul, Randall B. Barnes, Jasmine Parma, Robert L. Rosenfield
المصدر: The Journal of clinical endocrinology and metabolism. 81(10)
مصطلحات موضوعية: Adult, Male, endocrine system, medicine.medical_specialty, Genotype, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Puberty, Precocious, Biology, Biochemistry, Dexamethasone, Follicle-stimulating hormone, Nafarelin, Endocrinology, Internal medicine, Gonadotropin-releasing hormone agonist, medicine, Precocious puberty, Humans, Testosterone, Estradiol, Biochemistry (medical), luteinizing hormone/choriogonadotropin receptor, Luteinizing Hormone, Receptors, LH, medicine.disease, Hormones, Pedigree, Child, Preschool, Mutation, Androgens, Female, Gonadotropin, Follicle Stimulating Hormone, Luteinizing hormone, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f943f318156c2302a7ae727469e4dc1b
https://pubmed.ncbi.nlm.nih.gov/8855841 -
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المؤلفون: Francis H. Straus, Ira M. Rosenthal, Saroa Gooneratne, Serdar E. Bulun, W. Zeller, Stephanie Ming Young
المصدر: The American journal of surgical pathology. 19(1)
مصطلحات موضوعية: Anti-Mullerian Hormone, Male, medicine.medical_specialty, Peutz-Jeghers Syndrome, Testicle, Pathology and Forensic Medicine, Testicular Neoplasms, Internal medicine, Testis, medicine, Humans, Feminization, Aromatase, Glycoproteins, Basement membrane, biology, Anti-Müllerian hormone, Seminiferous Tubules, Sertoli cell, medicine.disease, Growth Inhibitors, Microscopy, Electron, Testicular Hormones, medicine.anatomical_structure, Endocrinology, Gynecomastia, Child, Preschool, biology.protein, Sertoli Cell Tumor, Surgery, Anatomy, Corpus luteum, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b8774db931dafbd0ba4ca2ee0852c6
https://pubmed.ncbi.nlm.nih.gov/7802138 -
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المؤلفون: Ira M. Rosenthal, Samuel Refetoff, Randall B. Barnes, Thongkun Sunthornthepvarakul, Robert L. Rosenfield, Jasmine Parma, Barry H. Rich
المصدر: Pediatric Research. 39:97-97
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, luteinizing hormone/choriogonadotropin receptor, medicine, Biology, Luteinizing hormone, Receptor, Activating mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c656fd8a45a3ea1cf88948c65f43ff02
https://doi.org/10.1203/00006450-199604001-00590 -
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المؤلفون: Ira M. Rosenthal, John B. Coleman
المصدر: The Journal of Pediatrics. 120:331
مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, business.industry, Guanine, Phosphoribosyl transferase, Infant, Addendum, Molecular biology, Failure to Thrive, Uric Acid, chemistry.chemical_compound, chemistry, Pediatrics, Perinatology and Child Health, Humans, Medicine, Kidney Diseases, business, Hypoxanthine