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1.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet;
105(3): 493-508, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
2.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet;
102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
3.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet;
99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
4.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med;
2019 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
5.
Putting genome-wide sequencing in neonates into perspective.
Genet Med;
2018 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
6.
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
7.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med;
2018 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
8.
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
9.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet;
93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183451
10.
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Brain;
140(11): e66, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053797
11.
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
12.
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
13.
Chimerism occurs in thyroid, lung, skin and lymph nodes of women with sons.
J Reprod Immunol;
78(1): 68-75, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18329105
14.
Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.
Fam Cancer;
17(3): 415-420, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124495
15.
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
16.
Tissue chimerism in systemic lupus erythematosus is related to injury.
Ann Rheum Dis;
66(12): 1568-73, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17584805
17.
Endothelial chimerism in transplantation: Looking for needles in a haystack.
Transplantation;
82(1 Suppl): S25-9, 2006 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16829790
18.
Change in blood group in systemic lupus erythematosus.
Lancet;
369(9557): 186-7; author reply 187, 2007 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17240276
19.
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Eur J Hum Genet;
20(2): 166-70, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21915152
20.
Potential for glomerular C4d as an indicator of thrombotic microangiopathy in lupus nephritis.
Arthritis Rheum;
58(8): 2460-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18668574