Detalhe da pesquisa
1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36757831
2.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35675510
3.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
4.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
5.
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Am J Med Genet A
; 182(9): 2058-2067, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32686290
6.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33043602
7.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32710489
8.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30194818
9.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38293138
10.
SCAI welcomes the rest of the cath lab team.
Catheter Cardiovasc Interv
; 86(4): 609-10, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26386231
11.
Body Temperature Responses During Phases of Work in Human Remains Detection Dogs Undergoing a Simulated Deployment.
Animals (Basel)
; 10(4)2020 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32294950
12.
Causes of Death in Military Working Dogs During Operation Iraqi Freedom and Operation Enduring Freedom, 2001-2013.
Mil Med
; 183(9-10): e467-e474, 2018 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29547926
13.
Trauma Management of Military Working Dogs.
Mil Med
; 183(suppl_2): 180-189, 2018 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30189081
14.
Rise in the incidence of abusive head trauma during the COVID-19 pandemic.
Arch Dis Child
; 106(3): e14, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32616522
15.
Best practice recommendations for prehospital veterinary care of dogs and cats.
J Vet Emerg Crit Care (San Antonio)
; 26(2): 166-233, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26994496
16.
POGZ truncating alleles cause syndromic intellectual disability.
Genome Med
; 8(1): 3, 2016 Jan 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26739615
17.
Review of Canine Deaths While in Service in US Civilian Law Enforcement (2002-2012).
J Spec Oper Med
; 14(4): 86-91, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25399373
18.
Gunshot wounds in military working dogs in Operation Enduring Freedom and Operation Iraqi Freedom: 29 cases (2003-2009).
J Vet Emerg Crit Care (San Antonio)
; 23(1): 47-52, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23356705
19.
Rethinking Heat Injury in the SOF Multipurpose Canine: A Critical Review.
J Spec Oper Med
; 12(2): 8-15, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22707020
20.
Heart Rythm Society expert consensus statement on electrophysiology laboratory standards: process, protocols, equipment, personnel, and safety.
Heart Rhythm
; 11(8): e9-51, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24814989