Detalhe da pesquisa
1.
A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.
Metab Brain Dis
; 34(1): 373-376, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30350008
2.
Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
Can J Neurol Sci
; : 1-3, 2023 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37681231
3.
α2* Nicotinic acetylcholine receptors influence hippocampus-dependent learning and memory in adolescent mice.
Learn Mem
; 24(6): 231-244, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28507032
4.
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.
bioRxiv
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585878
5.
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
HGG Adv
; 5(2): 100274, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358893
6.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585796
7.
Collagen type VI regulates TGFß bioavailability in skeletal muscle.
bioRxiv
; 2023 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38586035
8.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196629
9.
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
EMBO Mol Med
; 13(12): e13787, 2021 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34779586
10.
Stress and coping strategies in pediatric dental residents.
J Dent Educ
; 84(10): 1064-1073, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32608030
11.
The effect of condyle fossa relationships on head posture.
Cranio
; 23(1): 48-52, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15727321
12.
The Quality of YouTube Videos as an Educational Resource for Attention-Deficit/Hyperactivity Disorder.
Pediatr Neurol
; 103: 84-85, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31202605
13.
A longitudinal study of stress in first-year dental students.
J Dent Educ
; 74(8): 836-48, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20679453