Found: 57
Select item for more details and to access through your institution.
Decreased First Phase Insulin Response in Children with Congenital Insensitivity to Pain with Anhidrosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 9, p. 873, doi. 10.1515/jpem.2005.18.9.873
- By:
- Publication type:
- Article
Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome - A Review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 12, p. 1583, doi. 10.1515/jpem.2004.17.12.1583
- By:
- Publication type:
- Article
Subnormal Cortisol Response to Adrenocorticotropin in Isolated Partial 17,20-Lyase Deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 4, p. 387, doi. 10.1515/jpem.1997.10.4.387
- By:
- Publication type:
- Article
Thyrotropin Secreting Pituitary Adenoma Associated with Hypopituitarism and Diabetes Insipidus in an Adolescent Boy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1995, v. 8, n. 1, p. 47, doi. 10.1515/jpem.1995.8.1.47
- By:
- Publication type:
- Article
Cover Image.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 6, p. i, doi. 10.1111/pedi.13433
- By:
- Publication type:
- Article
Youth‐onset type 2 diabetes in Israel: A national cohort.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 6, p. 649, doi. 10.1111/pedi.13351
- By:
- Publication type:
- Article
Hereditary orotic aciduria identified by newborn screening.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1135267
- By:
- Publication type:
- Article
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8233, doi. 10.3390/ijms24098233
- By:
- Publication type:
- Article
A Phase II, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Alpha-1 Antitrypsin (AAT) (Glassia®) in the Treatment of Recent-Onset Type 1 Diabetes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 6032, doi. 10.3390/ijms20236032
- By:
- Publication type:
- Article
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1140, doi. 10.3390/genes12081140
- By:
- Publication type:
- Article
Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 997, doi. 10.1038/sj.ejhg.5201894
- By:
- Publication type:
- Article
The utility of basal serum LH in prediction of central precocious puberty in girls.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 295, doi. 10.1530/EJE-11-0720
- By:
- Publication type:
- Article
Ethnic Differences in Glycemic Control and Diabetic Ketoacidosis Rate Among Children with Diabetes Mellitus Type 1 in the Negev Area.
- Published in:
- Israel Medical Association Journal, 2013, v. 15, n. 6, p. 267
- By:
- Publication type:
- Article
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005388
- By:
- Publication type:
- Article
The Effect of a Nutritional Supplement on Growth and Body Composition in Short and Lean Preadolescent Boys following One Year of Intervention.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 3, p. 278, doi. 10.1159/000526671
- By:
- Publication type:
- Article
Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 5, p. 336, doi. 10.1159/000358327
- By:
- Publication type:
- Article
Ethnic and Gender Inequities in the Evaluation of Referred Short Children.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 76, n. 1, p. 50, doi. 10.1159/000325705
- By:
- Publication type:
- Article
Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 6, p. 697, doi. 10.1515/jpem-2017-0483
- By:
- Publication type:
- Article
Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1187, doi. 10.1515/jpem-2015-0075
- By:
- Publication type:
- Article
Multiple Endocrine Deficiencies are Common in Hypoparathyroidism–Retardation–Dysmorphism Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. e907, doi. 10.1210/clinem/dgaa807
- By:
- Publication type:
- Article
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 31, doi. 10.1002/pd.516
- By:
- Publication type:
- Article
Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 475, doi. 10.1002/1097-0223(200006)20:6<475::AID-PD856>3.0.CO;2-Z
- By:
- Publication type:
- Article
Human Calmodulin Methyltransferase: Expression, Activity on Calmodulin, and Hsp90 Dependence.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052425
- By:
- Publication type:
- Article
Effect of a nutritional supplementation on growth and body composition in short and lean preadolescent boys: A randomised, double‐blind, placebo‐controlled study.
- Published in:
- Acta Paediatrica, 2022, v. 111, n. 1, p. 141, doi. 10.1111/apa.16054
- By:
- Publication type:
- Article
Visits at the primary clinic do not reduce ketoacidosis rates at presentation in type 1 diabetes mellitus.
- Published in:
- Acta Paediatrica, 2021, v. 110, n. 3, p. 995, doi. 10.1111/apa.15542
- By:
- Publication type:
- Article
High prevalence of hypophosphatasia in Southern Israel.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 448
- By:
- Publication type:
- Article
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
- Published in:
- 2008
- By:
- Publication type:
- journal article
CONSENSUS STATEMENT: Childhood Obesity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1871, doi. 10.1210/jc.2004-1389
- By:
- Publication type:
- Article
A Novel Mutation Causing Complete Thyroxine-Binding Globulin Deficiency (TBG-CD-Negev) among the Bedouins in Southern Israel.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 10, p. 3687, doi. 10.1210/jcem.85.10.6899
- By:
- Publication type:
- Article
Patterns in Body Mass Index Changes in Children after Type 1 Diabetes Mellitus Diagnosis.
- Published in:
- Israel Medical Association Journal, 2023, v. 25, n. 2, p. 137
- By:
- Publication type:
- Article
Diagnosis, Management, and Possible Prevention of Hungry Bone Syndrome in an Adolescent with Primary Hyperparathyroidism and Vitamin D Deficiency.
- Published in:
- Israel Medical Association Journal, 2020, v. 22, n. 2, p. 122
- By:
- Publication type:
- Article
Kramers turnover theory for bridges.
- Published in:
- Annalen der Physik, 2000, v. 512, n. 10, p. 764, doi. 10.1002/andp.200051209-1012
- By:
- Publication type:
- Article
Comparing single versus multiple virus detection in pediatric acute gastroenteritis postimplementation of routine multiplex RT‐PCR diagnostic testing.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 1, p. 1, doi. 10.1002/jmv.29344
- By:
- Publication type:
- Article
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 397, doi. 10.1007/s00439-010-0930-4
- By:
- Publication type:
- Article
GH treatment in pediatric Down syndrome: a systematic review and mini meta-analysis.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1135768
- By:
- Publication type:
- Article
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 606, doi. 10.1002/jimd.12331
- By:
- Publication type:
- Article
Thyroid function tests in newborns of mothers with hypothyroidism.
- Published in:
- European Journal of Pediatrics, 2021, v. 180, n. 2, p. 519, doi. 10.1007/s00431-020-03895-y
- By:
- Publication type:
- Article
Obstructive sleep apnea and metabolic disorders in morbidly obese adolescents.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 12, p. 3983, doi. 10.1002/ppul.25652
- By:
- Publication type:
- Article
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO<sub>3</sub><sup>−</sup> secretion revealed by disease causing human mutation.
- Published in:
- Journal of Physiology, 2015, v. 593, n. 24, p. 5299, doi. 10.1113/JP271378
- By:
- Publication type:
- Article
Increase in the incidence of type 1 diabetes in Israeli children following the Second Lebanon War.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 4, p. 319, doi. 10.1111/j.1399-5448.2011.00838.x
- By:
- Publication type:
- Article
Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen.
- Published in:
- Clinical Transplantation, 2005, v. 19, n. 6, p. 840, doi. 10.1111/j.1399-0012.2005.00411.x
- By:
- Publication type:
- Article
Single nucleotide RNA choreography.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 5, p. 1481, doi. 10.1093/nar/gkj500
- By:
- Publication type:
- Article
Automated identification of RNA conformational motifs: theory and application to the HM LSU 23S rRNA.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 21, p. 6249, doi. 10.1093/nar/gkg835
- By:
- Publication type:
- Article
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1671, doi. 10.1002/humu.23310
- By:
- Publication type:
- Article
Thyroglossal Duct Carcinoma in Children: Case Presentation and Review of the Literature.
- Published in:
- Thyroid, 2004, v. 14, n. 9, p. 777
- By:
- Publication type:
- Article
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1033, doi. 10.1002/ajmg.a.62056
- By:
- Publication type:
- Article
Phosphoglucomutase-1 Deficiency: Intrafamilial Clinical Variability and Common Secondary Adrenal Insufficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3139, doi. 10.1002/ajmg.a.37294
- By:
- Publication type:
- Article
Prenatal ultrasonic diagnosis of nonhypertrophic pyloric stenosis associated with intestinal malrotation.
- Published in:
- 1994
- By:
- Publication type:
- journal article