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1.
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
Clin Genet
; 105(2): 190-195, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37821225
2.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat
; 43(12): 2063-2078, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36125428
3.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
J Hum Genet
; 63(4): 517-520, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29410511
4.
COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell reactogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS) - preliminary study.
Vaccine
; 41(13): 2289-2299, 2023 03 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36870876
5.
COVID-19 mRNA BNT162b2 vaccine immunogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS).
Vaccine
; 41(21): 3317-3327, 2023 05 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37087396
6.
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
Genes (Basel)
; 13(2)2022 01 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-35205213
7.
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Genes (Basel)
; 13(8)2022 07 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35893076
8.
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Genes (Basel)
; 13(5)2022 04 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35627110
9.
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
Genes (Basel)
; 12(7)2021 07 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-34356094
10.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Mol Genet Genomic Med
; 9(9): e1772, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34342181
11.
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.
Front Genet
; 12: 620752, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33995476
12.
Distinct characteristics of multisystem inflammatory syndrome in children in Poland.
Sci Rep
; 11(1): 23562, 2021 12 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34876594
13.
HPV vaccine acceptance and hesitancy - lessons learned during 8 years of regional HPV prophylaxis program in Wroclaw, Poland.
Eur J Cancer Prev
; 29(4): 346-349, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31770346
14.
Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway.
Int J Pediatr Otorhinolaryngol
; 134: 110038, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32335464
15.
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
J Clin Med
; 9(7)2020 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32668698
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