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1.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet;
104(1): 94-111, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609410
2.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet;
104(2): 287-298, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661771
3.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet;
105(4): 854-868, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
4.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet;
105(3): 631-639, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
5.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet;
102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
6.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet;
27(14): 2454-2465, 2018 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
7.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet;
100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
8.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet;
101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
9.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat;
2019 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705726
10.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Am J Med Genet A;
179(10): 2049-2055, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400068
11.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A;
179(2): 150-158, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614194
12.
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.
BMC Pediatr;
19(1): 245, 2019 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325964
13.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med;
2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
14.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med;
2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
15.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet;
63(12): 1211-1222, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250212
16.
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Am J Med Genet A;
173(5): 1219-1225, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28317311
17.
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Am J Hum Genet;
92(4): 627-31, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561848
18.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat;
36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
19.
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Genet Med;
16(2): 176-82, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23928913
20.
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Genet Med;
16(6): 448-59, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24232412