Detalhe da pesquisa
1.
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Am J Med Genet A
; 194(3): e63449, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876348
2.
SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation.
Pediatr Transplant
; 28(1): e14661, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149330
3.
Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.
Am J Med Genet A
; 191(6): 1581-1585, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36815763
4.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
5.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 99(1): 236-45, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392078
6.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
7.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
8.
First cardiac manifestation of hypotonia-cystinuria syndrome.
Metab Brain Dis
; 33(4): 1375-1379, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29627929
9.
Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!
Klin Padiatr
; 235(5): 308-309, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075239
10.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Am J Med Genet A
; 173(12): 3136-3142, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136349
11.
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Metab Brain Dis
; 32(5): 1389-1393, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752220
12.
Preparation of electrospun polyurethane nanofiber mats for the release of doxorubicine.
J Mater Sci Mater Med
; 29(1): 8, 2017 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29275508
13.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625027
14.
Evaluation of Risk Factors for Antibiotic Resistance in Patients with Nosocomial Infections Caused by Pseudomonas aeruginosa.
Can J Infect Dis Med Microbiol
; 2016: 1321487, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27656220
15.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
16.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat
; 35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488861
17.
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Pediatr Blood Cancer
; 61(2): 302-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24106199
18.
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.
Mol Syndromol
; 15(2): 156-160, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585546
19.
Examining the impact of a 9-component bundle and the INICC multidimensional approach on catheter-associated urinary tract infection rates in 32 countries across Asia, Eastern Europe, Latin America, and the Middle East.
Am J Infect Control
; 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38437883
20.
Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.
Metab Brain Dis
; 33(6): 1779-1780, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066125