Detalhe da pesquisa
1.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
2.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
3.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
4.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067
5.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
J Med Genet
; 54(6): 432-440, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28258187
6.
Aztreonam-avibactam synergy, a validation and comparison of diagnostic tools.
Front Microbiol
; 14: 1322180, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38094627
7.
False positive Herpes Simplex IgM serology in COVID-19 patients correlates with SARS-CoV-2 IgM/IgG seropositivity.
Diagn Microbiol Infect Dis
; 103(1): 115653, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228129
8.
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Eur J Med Genet
; 61(12): 733-737, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29883675
9.
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Eur J Med Genet
; 61(12): 783-789, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30391508