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1.
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
Int J Mol Sci
; 24(6)2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36983033
2.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.
Proc Natl Acad Sci U S A
; 114(10): E1933-E1940, 2017 03 07.
Article
in English
| MEDLINE | ID: mdl-28228528
3.
Insular damage causing transient baroreflex dysfunction in a teenager with Allgrove syndrome.
Clin Auton Res
; 31(4): 581-584, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33560460
4.
Reduced hepatic stellate cell expression of Kruppel-like factor 6 tumor suppressor isoforms amplifies fibrosis during acute and chronic rodent liver injury.
Hepatology
; 57(2): 786-96, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-22961688
5.
Fertility and sexual activity in patients with Triple A syndrome.
Front Endocrinol (Lausanne)
; 15: 1357084, 2024.
Article
in English
| MEDLINE | ID: mdl-38544685
6.
Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.
Biochem Genet
; 51(3-4): 189-201, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23224783
7.
The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.
Front Endocrinol (Lausanne)
; 14: 1170449, 2023.
Article
in English
| MEDLINE | ID: mdl-37324261
8.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047859
9.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
J Clin Endocrinol Metab
; 106(11): e4716-e4733, 2021 10 21.
Article
in English
| MEDLINE | ID: mdl-34136918
10.
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
Eur J Pediatr
; 169(7): 891-4, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20024693
11.
Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.
Eur J Med Genet
; 63(10): 104022, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32712215
12.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Nat Commun
; 11(1): 4287, 2020 08 27.
Article
in English
| MEDLINE | ID: mdl-32855419
13.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
Horm Res
; 72(4): 247-51, 2009.
Article
in English
| MEDLINE | ID: mdl-19786796
14.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
Horm Res
; 72(5): 310-4, 2009.
Article
in English
| MEDLINE | ID: mdl-19844117
15.
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Eur J Pediatr
; 168(7): 847-9, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-18923840
16.
[Duplication of the pituitary gland]. / Dvostruka hipofiza.
Lijec Vjesn
; 131(5-6): 130-2, 2009.
Article
in Croatian
| MEDLINE | ID: mdl-19642532
17.
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
J Steroid Biochem Mol Biol
; 165(Pt A): 51-56, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27041116
18.
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 ß -Hydroxylase Deficiency.
Int J Endocrinol
; 2014: 185974, 2014.
Article
in English
| MEDLINE | ID: mdl-24987415
19.
Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.
Mol Cytogenet
; 6(1): 7, 2013 Feb 06.
Article
in English
| MEDLINE | ID: mdl-23383958
20.
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
J Appl Genet
; 52(2): 209-12, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21225389
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