Detalhe da pesquisa
1.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193396
2.
Eligibility for growth hormone therapy in children born small for gestational age is substantially lower than expected.
Clin Endocrinol (Oxf)
; 95(2): 308-314, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887065
3.
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Am J Med Genet A
; 185(4): 1033-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438832
4.
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Pediatr Endocrinol Rev
; 17(4): 302-307, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32780953
5.
Global Emergencies in Child Health: Challenges and Solutions-Viewpoint and Recommendations from the European Paediatric Association and the International Pediatric Association.
J Pediatr
; 241: 266-266.e3, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756940
6.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
J Med Genet
; 52(9): 636-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070314
7.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Am J Hum Genet
; 89(4): 572-9, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963259
8.
Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.
JPGN Rep
; 4(3): e339, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600626
9.
Lessons Learned From COVID-19 Lockdown: An ASPED/MENA Study on Lifestyle Changes and Quality of Life During Ramadan Fasting in Children and Adolescents Living With Type 1 Diabetes.
Clin Med Insights Endocrinol Diabetes
; 16: 11795514231203907, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867504
10.
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
J Clin Invest
; 132(5)2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35025765
11.
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Nephron Physiol
; 119(3): p31-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21849803
12.
Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village .
BMJ Glob Health
; 6(10)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675026
13.
Optimizing health care for individuals with Down syndrome in Israel.
Isr Med Assoc J
; 11(11): 655-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108550
14.
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 104(8): 3172-3180, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30865229
15.
Retraction Notice to "Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation".
J Dermatol Sci
; 108(2): 116, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739155
16.
Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation.
J Dermatol Sci
; 87(2): 123-129, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28385331
17.
GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves ß-Cell Function in Type 2 Wolfram Syndrome.
J Clin Endocrinol Metab
; 101(10): 3592-3599, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27459537
18.
Propionic acidemia mimicking diabetic ketoacidosis.
Brain Dev
; 33(5): 428-31, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20634010
19.
Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone.
Clin Pediatr (Phila)
; 54(12): 1215-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25533884
20.
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.
Eur J Endocrinol
; 162(2): 221-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897608