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Elevated anti‐tissue transglutaminase antibodies in children newly diagnosed with type 1 diabetes do not always indicate coeliac disease

Acta Paediatrica, 2019-01, Vol.108 (1), p.149-153

2019

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Youth‐onset type 2 diabetes in Israel: A national cohort

Pediatric diabetes, 2022-09, Vol.23 (6), p.649-659

2022

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Birth during the moderate weather seasons is associated with early onset of type 1 diabetes in the Mediterranean area

Diabetes/metabolism research and reviews, 2020-10, Vol.36 (7), p.e3318-n/a

2020

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A novel HSD17B3 gene mutation in a 46,XY female‐phenotype newborn identified by whole‐exome sequencing

Clinical endocrinology (Oxford), 2017-10, Vol.87 (4), p.407-408

2017

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Prevalence of early and late prematurity is similar among pediatric type 1 diabetes patients and the general population

Diabetes/metabolism research and reviews, 2018-07, Vol.34 (5), p.e2996-n/a

2018

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Adult height of subjects with nonclassical 21-hydroxylase deficiency

Acta Paediatrica, 2013-04, Vol.102 (4), p.419-423

2013

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Long-Term Outcome of Patients with TPO Mutations

Journal of clinical medicine, 2021-08, Vol.10 (17), p.3898

2021

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Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction during pregnancy

European thyroid journal, 2022-08, Vol.11 (4), p.1-8

2022

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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

Journal of medical genetics, 2015-06, Vol.52 (6), p.391-399

2015

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A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)

Clinical endocrinology (Oxford), 2013-12, Vol.79 (6), p.838-844

2013

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Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

Clinical endocrinology (Oxford), 2006-06, Vol.64 (6), p.645-651

2006

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Non-transferrin bound labile plasma iron and iron overload in Sickle Cell Disease: a comparative study between Sickle Cell Disease and β thalassemic patients

European journal of haematology, 2010-01, Vol.84 (1), p.72-78

2010

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Combined Gestational Age- and Birth Weight–Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2019-08, Vol.104 (8), p.3172-3180

2019

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Long-Term Follow-Up and Outcomes of Autoimmune Thyroiditis in Childhood

Frontiers in endocrinology (Lausanne), 2020-06, Vol.11, p.309-309

2020

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Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy

Clinical endocrinology (Oxford), 2010-02, Vol.72 (2), p.264-271

2010

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Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

Thyroid (New York, N.Y.), 2016-12, Vol.26 (12), p.1693-1700

2016

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Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

Frontiers in endocrinology (Lausanne), 2021-06, Vol.12, p.645279-645279

2021

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Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

Clinical endocrinology (Oxford), 2005-05, Vol.62 (5), p.547-553

2005

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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

Pediatric diabetes, 2014-05, Vol.15 (3), p.252-256

2014

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A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood

Clinical endocrinology (Oxford), 2011-08, Vol.75 (2), p.214-219

2011

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Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome

The journal of clinical endocrinology and metabolism, 2007-03, Vol.92 (3), p.846-852

2007

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Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

Frontiers in endocrinology (Lausanne), 2021-05, Vol.12, p.673755

2021

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Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Frontiers in endocrinology (Lausanne), 2019-06, Vol.10, p.381

2019

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Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation

Thyroid (New York, N.Y.), 2012-05, Vol.22 (5), p.542-546

2012

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The evolving role of whole-exome sequencing in the management of disorders of sex development

Endocrine Connections, 2021-06, Vol.10 (6), p.620-629

2021

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Elevated anti‐tissue transglutaminase antibodies in children newly diagnosed with type 1 diabetes do not always indicate coeliac disease

Youth‐onset type 2 diabetes in Israel: A national cohort

Birth during the moderate weather seasons is associated with early onset of type 1 diabetes in the Mediterranean area

A novel HSD17B3 gene mutation in a 46,XY female‐phenotype newborn identified by whole‐exome sequencing

Prevalence of early and late prematurity is similar among pediatric type 1 diabetes patients and the general population

Adult height of subjects with nonclassical 21-hydroxylase deficiency

Long-Term Outcome of Patients with TPO Mutations

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction during pregnancy

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1)

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

Non-transferrin bound labile plasma iron and iron overload in Sickle Cell Disease: a comparative study between Sickle Cell Disease and β thalassemic patients

Combined Gestational Age- and Birth Weight–Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia

Long-Term Follow-Up and Outcomes of Autoimmune Thyroiditis in Childhood

Neonatal hyperthyrotropinemia: population characteristics, diagnosis, management and outcome after cessation of therapy

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood

Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation

The evolving role of whole-exome sequencing in the management of disorders of sex development

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