Detalhe da pesquisa
1.
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Mol Genet Metab
; 140(3): 107702, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776842
2.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515074
3.
Preterm Singleton Birth Rate during the COVID-19 Lockdown: A Population-Based Study.
Am J Perinatol
; 39(9): 1020-1026, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34891197
4.
Maternal iodine deficiency: a newborns' overweight risk factor? A prospective study.
Arch Gynecol Obstet
; 305(3): 777-787, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599677
5.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190319
6.
Thyroid function tests in newborns of mothers with hypothyroidism.
Eur J Pediatr
; 180(2): 519-525, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33404896
7.
The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.
Clin Endocrinol (Oxf)
; 92(5): 443-449, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043280
8.
Characteristics of Delayed Thyroid Stimulating Hormone Elevation in Neonatal Intensive Care Unit Newborns.
J Pediatr
; 178: 135-140.e1, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27546202
9.
Hypothyroxinemia and Risk for Transient Tachypnea of Newborn.
J Pediatr
; 179: 266-268.e1, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27659026
10.
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
J Inherit Metab Dis
; 39(2): 211-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566957
11.
Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I.
Pediatr Rev
; 40(12): 639-642, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792048
12.
Outcomes in Maternal Graves' Disease: A Population-Based Mother-Infant Dyad Cohort Study.
Thyroid
; 34(1): 123-133, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38009210
13.
Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.
J Clin Endocrinol Metab
; 109(2): 424-438, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37669316
14.
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.
Isr Med Assoc J
; 15(8): 404-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24079059
15.
Hereditary orotic aciduria identified by newborn screening.
Front Genet
; 14: 1135267, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999056
16.
Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction during pregnancy.
Eur Thyroid J
; 11(4)2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613337
17.
Can Mild-to-Moderate Iodine Deficiency during Pregnancy Alter Thyroid Function? Lessons from a Mother-Newborn Cohort.
Nutrients
; 14(24)2022 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36558495
18.
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
J Allergy Clin Immunol Pract
; 10(10): 2722-2731.e9, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487367
19.
Metabolic biomarkers of small and large for gestational age newborns.
Early Hum Dev
; 160: 105422, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271419
20.
Long-Term Outcome of Patients with TPO Mutations.
J Clin Med
; 10(17)2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34501348