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1
المؤلفون: Tehila Klopstock, Maha Abdulhadi-Atwan, Ariella Weinberg-Shukron, Ephrat Levy-Lahad, Paul Renbaum, David Zangen, Muna Sharaf
المصدر: American Journal of Medical Genetics Part A. 182:1268-1272
مصطلحات موضوعية: Genetics, Mitochondrial RNA processing, Mutation, RNase P, RNA, Biology, medicine.disease, medicine.disease_cause, Short stature, RNase MRP, Dysplasia, medicine, medicine.symptom, Genetics (clinical), Ribonucleoprotein
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2
المؤلفون: Maha Abdulhadi-Atwan, David Zangen, Mira Korner, Floris Levy-Khademi, Perrin C. White, Abdulsalam Abu Libdeh, Emily Bosin
المصدر: European Journal of Endocrinology. 162:221-226
مصطلحات موضوعية: Male, medicine.medical_specialty, Vasopressin, Adolescent, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Genes, Recessive, Endocrinology, Polyuria, Neurophysin II, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Desmopressin, Family Health, Hypernatremia, Base Sequence, business.industry, Infant, General Medicine, medicine.disease, Arabs, Pedigree, Arginine Vasopressin, Diabetes Insipidus, Neurogenic, Child, Preschool, Failure to thrive, Diabetes insipidus, Female, medicine.symptom, business, Polydipsia, hormones, hormone substitutes, and hormone antagonists, Microsatellite Repeats, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440e88fa7501d582ba3937bfbbffc0b0
https://doi.org/10.1530/eje-09-0772 -
3
المؤلفون: Jeremy D. Bushman, Sharona Tornovsky-Babaey, Benjamin Glaser, Maha Abdulhadi-Atwan, Show Ling Shyng, David Zangen, Abdulsalam Abu-Libdeh, Avital Perry
المصدر: Diabetes
مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Aging, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Receptors, Drug, Sulfonylurea Receptors, Pathophysiology, ABCC8, Glibenclamide, Seizures, Diabetes mellitus, Internal medicine, Hyperinsulinism, Internal Medicine, medicine, Humans, Obesity, Potassium Channels, Inwardly Rectifying, Child, biology, business.industry, Neonatal hypoglycemia, Siblings, Puberty, Exons, medicine.disease, Sulfonylurea, Introns, Pedigree, Endocrinology, Diabetes Mellitus, Type 1, Mutation, biology.protein, Congenital hyperinsulinism, Sulfonylurea receptor, ATP-Binding Cassette Transporters, Female, business, medicine.drug
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4
المؤلفون: Israela Lerer, Maha Abdulhadi-Atwan, Wendy K. Chung, Ziva Ben Neriah, Sharon E. Oberfield, Ilene Fennoy, Amy M. Jean, Svetlana Ten, Harry J. Hirsch, George Stratigopoulos, Amrit Bhangoo, Karen Meir, David Zangen
المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:4000-4008
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), medicine.disease_cause, Biochemistry, Endocrinology, Internal medicine, Testis, medicine, Humans, Child, Mutation, Adrenal Hyperplasia, Congenital, business.industry, Steroidogenic acute regulatory protein, Biochemistry (medical), Infant, Newborn, Infant, Phosphoproteins, Phenotype, Founder Effect, Arabs, Pedigree, Placental alkaline phosphatase, Child, Preschool, Female, business, Chromosomes, Human, Pair 8, Hormone, Founder effect
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37065fc252bfaa960aa90021cb648131
https://doi.org/10.1210/jc.2007-1306 -
5
المؤلفون: Ephrat Levy-Lahad, Paul Renbaum, Hila Fridman, Oded Breuer, Maha Abdulhadi-Atwan, Sharon Zeligson, David H Zangen
المصدر: European journal of endocrinology. 167(2)
مصطلحات موضوعية: Isolated hypogonadotropic hypogonadism, Male, medicine.medical_specialty, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutation, Missense, Gene mutation, Biology, medicine.disease_cause, Severity of Illness Index, Receptors, G-Protein-Coupled, Consanguinity, Young Adult, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, Genitalia, Mutation, Virilization, Hypogonadism, Siblings, Infant, Newborn, General Medicine, medicine.disease, Disease gene identification, Pedigree, Female, RNA Splice Sites, Gonadotropin, medicine.symptom, SNP array, Receptors, Kisspeptin-1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301e424289214010c406a1da4f185b40
https://pubmed.ncbi.nlm.nih.gov/22619348 -
6
المؤلفون: Liran Carmel, Shira Perlberg, Sharon Zeligson, Yotam Kaufman, Irit Kisslov, Moein Kanaan, David Zangen, Hila Fridman, Abdulsalam Abu Libdeh, Paul Renbaum, Ephrat Levy-Lahad, Ayal Gussow, Maha Abdulhadi-Atwan
المصدر: The American Journal of Human Genetics. (4):572-579
مصطلحات موضوعية: Genetic Markers, Male, Proteasome Endopeptidase Complex, medicine.medical_specialty, endocrine system, Genotype, Transcription, Genetic, Hearing Loss, Sensorineural, Gonadal dysgenesis, Biology, Gonadal Dysgenesis, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Hypergonadotropic hypogonadism, Report, Internal medicine, Genetics, medicine, Humans, Genetics(clinical), Nuclear protein, Genetics (clinical), 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Follicular atresia, Homozygote, Nuclear Proteins, Estrogens, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Premature ovarian failure, Endocrinology, Haplotypes, Nuclear receptor, 030220 oncology & carcinogenesis, Trans-Activators, Female, Follicle-stimulating hormone receptor, PSMC3IP Gene, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1d2b240e0504b4f2ffe1adb980f6ca