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1.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33149277
2.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32645220
3.
Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.
J Am Acad Dermatol
; 69(5): 768-775, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23972508
4.
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
Eur J Med Genet
; 64(11): 104320, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34438093
5.
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
J Child Neurol
; 36(8): 625-634, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33507832
6.
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Eur J Med Genet
; 62(10): 103726, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31319223
7.
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
Mol Genet Genomic Med
; 7(10): e00939, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31454185
8.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30664714
9.
Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?
Mov Disord
; 28(2): 250-2, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23238994
10.
MOG antibody-related disorders: common features and uncommon presentations.
J Neurol
; 264(9): 1945-1955, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28770374
11.
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Eur J Hum Genet
; 25(3): 376-380, 2017 02.
Article
in English
| MEDLINE | ID: mdl-28051072
12.
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.
Eur J Paediatr Neurol
; 20(2): 275-281, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26774135
13.
[Convulsions of infants and children]. / Convulsions chez le nourrisson et chez l'enfant.
Rev Prat
; 60(4): 543-50, 2010 Apr 20.
Article
in French
| MEDLINE | ID: mdl-20465134
14.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet J Rare Dis
; 8: 80, 2013 May 22.
Article
in English
| MEDLINE | ID: mdl-23692823
15.
[Transient ischemic attack: as well a paediatric emergency]. / L'accident ischémique transitoire : une urgence pédiatrique aussi.
Presse Med
; 44(2): 249-51, 2015 Feb.
Article
in French
| MEDLINE | ID: mdl-25555829
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