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Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 424, doi. 10.1210/clinem/dgad524
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- Article
Outcomes in Maternal Graves' Disease: A Population-Based Mother–Infant Dyad Cohort Study.
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- Thyroid, 2024, v. 34, n. 1, p. 123, doi. 10.1089/thy.2023.0291
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- Article
Can Mild-to-Moderate Iodine Deficiency during Pregnancy Alter Thyroid Function? Lessons from a Mother–Newborn Cohort.
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- Nutrients, 2022, v. 14, n. 24, p. 5336, doi. 10.3390/nu14245336
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- Article
Maternal iodine deficiency: a newborns' overweight risk factor? A prospective study.
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- Archives of Gynecology & Obstetrics, 2022, v. 305, n. 3, p. 777, doi. 10.1007/s00404-021-06261-x
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- Article
Congenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage.
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- Thyroid, 2021, v. 31, n. 12, p. 1878, doi. 10.1089/thy.2021.0388
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- Article
Long-Term Outcome of Patients with TPO Mutations.
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- Journal of Clinical Medicine, 2021, v. 10, n. 17, p. 3898, doi. 10.3390/jcm10173898
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- Article
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
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- Genes, 2021, v. 12, n. 8, p. 1140, doi. 10.3390/genes12081140
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- Article
Thyroid function tests in newborns of mothers with hypothyroidism.
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- European Journal of Pediatrics, 2021, v. 180, n. 2, p. 519, doi. 10.1007/s00431-020-03895-y
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- Article
The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.
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- Clinical Endocrinology, 2020, v. 92, n. 5, p. 443, doi. 10.1111/cen.14173
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- Article
Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.
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- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01672
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- Publication type:
- Article
MHC II deficient infant identified by newborn screening program for SCID.
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- Immunologic Research, 2018, v. 66, n. 4, p. 537, doi. 10.1007/s12026-018-9019-2
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- Article
Hyperthyroxinemia at birth: a cause of idiopathic neonatal hyperbilirubinemia?
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- World Journal of Pediatrics, 2018, v. 14, n. 3, p. 247, doi. 10.1007/s12519-017-0113-7
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- Publication type:
- Article
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
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- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01448
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- Publication type:
- Article
Risk Factors for the Development of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns.
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- Journal of Clinical Endocrinology & Metabolism, 2017, v. 102, n. 8, p. 3050, doi. 10.1210/jc.2017-00701
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- Publication type:
- Article
Risk Factors for the Development of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns.
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- 2017
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- Publication type:
- journal article
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4
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- Publication type:
- Article
Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene.
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- Thyroid, 2015, v. 25, n. 3, p. 292, doi. 10.1089/thy.2014.0311
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- Publication type:
- Article
Newborn Screening for Severe T and B cell Immunodeficiency in Israel: a Pilot Study.
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- Israel Medical Association Journal, 2013, v. 15, n. 8, p. 404
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- Article
Neonatal hyperthyrotropinemia is associated with low birth weight: a twin study.
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- European Journal of Endocrinology, 2013, v. 168, n. 2, p. 263, doi. 10.1530/EJE-12-0710
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- Article
The Impact of Refeeding on Blood Fatty Acids and Amino Acid Profiles in Elderly Patients: A Metabolomic Analysis.
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- JPEN Journal of Parenteral & Enteral Nutrition, 2013, v. 37, n. 1, p. 109, doi. 10.1177/0148607112443260
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- Publication type:
- Article
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ [sup 1]-pyrroline-5-carboxylate synthase.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2853, doi. 10.1093/hmg/9.19.2853
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- Publication type:
- Article
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
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- Nature Genetics, 1999, v. 22, n. 2, p. 151, doi. 10.1038/9658
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- Publication type:
- Article
A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease.
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- Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0
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- Publication type:
- Article