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1.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet;
103(5): 666-678, 2018 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
2.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med;
21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
3.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain;
2018 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
4.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med;
2018 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
5.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med;
2018 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
6.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet;
104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
7.
Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii.
BMC Genomics;
16: 296, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25886522
8.
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Brain;
142(5): e15, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31032849
9.
Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.
BMC Genomics;
15: 407, 2014 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24884896
10.
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Eur J Med Genet;
: 103777, 2019 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31580924
11.
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Nat Commun;
10(1): 4920, 2019 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664034
12.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat Commun;
10(1): 4919, 2019 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664039
13.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun;
10(1): 2079, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048695
14.
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med;
4: 16, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285849
15.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun;
10(1): 883, 2019 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770872
16.
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Eur J Hum Genet;
26(12): 1759-1772, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30087447
17.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun;
9(1): 4619, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397230
18.
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med;
2: 32, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263841
19.
Permanent draft genome sequence of the probiotic strain Propionibacterium freudenreichii CIRM-BIA 129 (ITG P20).
Stand Genomic Sci;
11: 6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26779303
20.
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Eur J Hum Genet;
24(6): 838-43, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395558