Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
3.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet
; 103(1): 125-130, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909962
4.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
5.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
6.
Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.
Klin Padiatr
; 233(5): 252-253, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102701
7.
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
JAMA Ophthalmol
; 139(3): 339-343, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33507209
8.
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.
Sci Rep
; 9(1): 13383, 2019 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527654
9.
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Eur J Hum Genet
; 25(6): 771-774, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378819
10.
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.
Cell Rep
; 10(5): 833-839, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25660031