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1.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Brain
; 2024 Jun 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38848546
2.
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Cytogenet Genome Res
; 162(7): 365-371, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36758534
3.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32761064
4.
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Hum Mutat
; 40(6): 816-827, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30870574
5.
Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.
Cytogenet Genome Res
; 151(4): 171-178, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28486223
6.
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Mol Cell Probes
; 32: 18-23, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27856333
7.
Exploring two novel cases of suspected ictal epileptic headache, a rare form of paediatric epilepsy.
Acta Paediatr
; 106(5): 786-790, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27992068
8.
Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy.
Mol Pharm
; 8(5): 1525-37, 2011 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-21851067
9.
CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.
Mol Cytogenet
; 9: 10, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26848311
10.
Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.
Mol Cytogenet
; 14(1): 17, 2021 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33750428
11.
RETRACTED: Novel and safer self-inactivating vectors for gene therapy of Wiskott-Aldrich Syndrome
Curr Gene Ther
; 15(3): 245 - 254, 2015 04 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-25963902
12.
WITHDRAWN: Assessment of hematopoietic and neurologic pathophysiology of HCLS1-associated protein X-1 deficiency in a Hax1-knockout mouse model
Exp Hematol
; 2014 10 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-25448489
13.
De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome.
Clin Dysmorphol
; 27(3): 97-100, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29738340
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