Detalhe da pesquisa
1.
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay.
Clin Genet
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38780184
2.
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
BMC Genomics
; 24(1): 422, 2023 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501076
3.
Compound heterozygous variants in WLS gene causes Zaki syndrome.
Clin Genet
; 104(2): 226-229, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005218
4.
The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Clin Genet
; 103(2): 179-189, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36284407
5.
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Am J Med Genet A
; 191(5): 1355-1359, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694287
6.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Am J Med Genet A
; 191(8): 2083-2091, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213061
7.
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
J Med Genet
; 59(2): 147-154, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323469
8.
[Value of serum fibroblast growth factor 23 in diagnosis of hypophosphatemic rickets in children]. / è¡æ¸ æ纤维ç»èçé¿å å23对å¿ç«¥ä½è¡ç£·æ§ä½å»ç çè¯æä»·å¼ç 究.
Zhongguo Dang Dai Er Ke Za Zhi
; 25(7): 705-710, 2023 Jul 15.
Artigo
em Zh
| MEDLINE | ID: mdl-37529952
9.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
10.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Am J Med Genet A
; 188(1): 310-313, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525250
11.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
12.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Nephrol Dial Transplant
; 37(10): 1833-1843, 2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473308
13.
[Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 209-212, 2022 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35076922
14.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145744
15.
[17 beta-hydroxysteroid dehydrogenase 3 deficiency due to novel compound heterozygous variants of HSD17B3 gene in a sib pair].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 787-790, 2021 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34365626
16.
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Clin Genet
; 97(3): 407-417, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31674016
17.
Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.
BMC Pediatr
; 20(1): 171, 2020 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32305064
18.
A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1.
BMC Pediatr
; 20(1): 218, 2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410653
19.
The application research of xTAG GPP multiplex PCR in the diagnosis of persistent and chronic diarrhea in children.
BMC Pediatr
; 20(1): 309, 2020 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32590971
20.
[Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1236-1240, 2020 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33179228