O. Admoni

发表

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

H. Mandel, G. Buck, P. Melone, 1997, Human molecular genetics.

Clinical significance of the parental origin of the X chromosome in turner syndrome.

L. Sagi, Z. Hochberg, L. Ghizzoni, 2007, The Journal of clinical endocrinology and metabolism.

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

Shoshana R Rath, Y. Tenenbaum‐Rakover, O. Admoni, 2020, Frontiers in Endocrinology.

Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?

M. Khayat, Y. Tenenbaum‐Rakover, Stavit Allon-Shalev, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

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

M. Phillip, M. Rachmiel, K. Mazor Aronovitch, 2022, Pediatric diabetes.

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.

J. Clarke, C. Kannengiesser, A. Linglart, 2015, The Journal of clinical endocrinology and metabolism.

Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.

N. de Roux, Y. Tenenbaum‐Rakover, O. Admoni, 2007, The Journal of clinical endocrinology and metabolism.

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

D. Fink, A. Koren, C. Levin, 2010, European journal of haematology.

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

K. McElreavey, C. Sultan, A. Bashamboo, 2021, Endocrine connections.

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype

I. Lavi, S. Israel, Y. Tenenbaum‐Rakover, 2006, Clinical endocrinology.

Extrapancreatic autoimmune manifestations in type 1 diabetes patients and their first-degree relatives: a multicenter study.

M. Boaz, D. Lehmann, A. Hanukoglu, 2003, Diabetes care.

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population

M. Khayat, S. Shalev, Y. Tenenbaum‐Rakover, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Epidemiological, clinical and microbiological features of shigellosis among hospitalized children in northern Israel.

P. Yagupsky, I. Horowitz, O. Admoni, 1995, Scandinavian journal of infectious diseases.

A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals

S. Refetoff, L. de Vries, P. Srichomkwun, 2016, Hormone Research in Paediatrics.

Decreased ferritin levels, despite iron supplementation, during erythropoietin therapy in anaemia of prematurity

D. Bader, A. Lanir, D. Attias, 1996, Acta paediatrica.

Non Transferrin Bound Labile Plasma Iron and Iron Overload in Sickle Cell Disease: a Comparative Study Between Sickle Cell Disease and β Thalassemic Patients.

D. Fink, A. Koren, C. Levin, 2009 .

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

S. Almashanu, D. Bercovich, S. Refetoff, 2015, Thyroid : official journal of the American Thyroid Association.

Long-Term Outcome of Patients with TPO Mutations

S. Almashanu, M. Khayat, Y. Tenenbaum‐Rakover, 2021, Journal of clinical medicine.

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.

L. Pardo, S. Refetoff, Chutintorn Sriphrapradang, 2011, The Journal of clinical endocrinology and metabolism.