Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
3.
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics.
Arch Dis Child Educ Pract Ed
; 107(2): 80-87, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414255
4.
Post-traumatic seizure with an unexpected finding.
Arch Dis Child Educ Pract Ed
; 103(6): 302-303, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28939550
5.
Fifteen minute consultation: an approach to the child with chronic headaches.
Arch Dis Child Educ Pract Ed
; 103(4): 177-183, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29222182
6.
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Neurogenetics
; 18(1): 49-55, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28063088
7.
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Dev Med Child Neurol
; 58(4): 416-20, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26645412
8.
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
J Neuromuscul Dis
; 11(2): 361-368, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189761
9.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484142
10.
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Lancet Diabetes Endocrinol
; 7(9): 695-706, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377265
11.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
; 90(1): e55-e66, 2018 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196579
12.
Glycine receptor antibody-associated epilepsy in a boy aged 4â years.
BMJ Case Rep
; 20162016 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797796
13.
LOWER EXTREMITY HYPERMOBILITY, BUT NOT CORE MUSCLE ENDURANCE INFLUENCES BALANCE IN FEMALE COLLEGIATE DANCERS.
Int J Sports Phys Ther
; 11(2): 220-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27104055
14.
Acute necrotising encephalopathy of childhood: an uncommon cause of childhood encephalopathy with recognisable clinical and radiological features and genetic predisposition.
Arch Dis Child
; 102(3): 292-293, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831913
15.
The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.
Eur J Paediatr Neurol
; 15(4): 316-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21345701
16.
To pee or not to pee......
Arch Dis Child
; 92(10): 865, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17895334