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1.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Article
in English
| MEDLINE | ID: mdl-33737400
2.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Article
in English
| MEDLINE | ID: mdl-27008887
3.
Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke.
J Pediatr
; 172: 156-161.e3, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26968833
4.
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Muscle Nerve
; 52(5): 728-35, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-25808192
5.
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
J Pers Med
; 12(2)2022 Feb 03.
Article
in English
| MEDLINE | ID: mdl-35207700
6.
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Am J Med Genet A
; 155A(4): 725-31, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21594994
7.
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.
J Pediatr
; 157(4): 623-9, 629.e1, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20553844
8.
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Eur J Paediatr Neurol
; 28: 214-220, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32694024
9.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Hum Mutat
; 29(5): 670-8, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18253926
10.
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Neurol Genet
; 4(6): e281, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30533527
11.
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Hum Mutat
; 24(1): 43-51, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15221788
12.
Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment.
Clin Infect Dis
; 36(3): e47-9, 2003 Feb 01.
Article
in English
| MEDLINE | ID: mdl-12539090
13.
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Eur J Hum Genet
; 21(8): 855-63, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23299919
14.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Orphanet J Rare Dis
; 7: 18, 2012 Mar 27.
Article
in English
| MEDLINE | ID: mdl-22452838
15.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Arch Neurol
; 66(12): 1511-6, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-20008656
16.
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Am J Med Genet A
; 129A(1): 21-4, 2004 Aug 15.
Article
in English
| MEDLINE | ID: mdl-15266610
17.
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
Hum Genet
; 112(2): 131-4, 2003 Feb.
Article
in English
| MEDLINE | ID: mdl-12522553
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