Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38527963
2.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
J Med Genet
; 60(5): 505-510, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36411030
3.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37558402
4.
Disparities in paediatric radiology research publications from low- and lower middle-income countries: a time for change.
Pediatr Radiol
; 54(3): 468-477, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37773442
5.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36896672
6.
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
J Med Genet
; 59(8): 810-816, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34462290
7.
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
J Med Genet
; 59(1): 28-38, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33106379
8.
Professional practice and awareness of child abuse among radiologists and radiologic technologists: results from Saudi Arabia.
Pediatr Radiol
; 53(5): 832-843, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36517574
9.
The effect of selective ultrasound screening on the incidence of late presentation of developmental hip dysplasia-a meta-analysis.
Pediatr Radiol
; 53(10): 1977-1988, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37099154
10.
Benign enlargement of the subarachnoid spaces and subdural collections-when to evaluate for abuse.
Pediatr Radiol
; 53(4): 752-767, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36856756
11.
Controversial aspects of imaging in child abuse: a second roundtable discussion from the ESPR child abuse taskforce.
Pediatr Radiol
; 53(4): 739-751, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36879046
12.
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.
Am J Med Genet A
; 188(1): 298-303, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34558814
13.
Current and emerging artificial intelligence applications for pediatric musculoskeletal radiology.
Pediatr Radiol
; 52(11): 2149-2158, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34272573
14.
Autonomous artificial intelligence in pediatric radiology: the use and perception of BoneXpert for bone age assessment.
Pediatr Radiol
; 52(7): 1338-1346, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35224658
15.
Postmortem computed tomography plus forensic autopsy for determining the cause of death in child fatalities.
Pediatr Radiol
; 52(13): 2620-2629, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35732843
16.
The (extended) achondroplasia foramen magnum score has good observer reliability.
Pediatr Radiol
; 52(8): 1512-1520, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35396670
17.
Femoral Lengthening in Children-A Comparison Between Magnetic Intramedullary Lengthening Nails and External Fixators.
J Pediatr Orthop
; 42(3): e290-e294, 2022 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34967804
18.
Quality of life of children during distraction osteogenesis: a comparison between intramedullary magnetic lengthening nails and external fixators.
Int Orthop
; 46(6): 1367-1373, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35385976
19.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Hum Mol Genet
; 28(21): 3543-3551, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31423530
20.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Am J Med Genet A
; 185(4): 1228-1235, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33439541