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1.
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Genes (Basel)
; 15(4)2024 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38674365
2.
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Commun Med (Lond)
; 4(1): 63, 2024 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38575714
3.
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel)
; 14(10)2023 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37895307
4.
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
Front Neurol
; 14: 1202971, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37448753
5.
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Genes (Basel)
; 12(8)2021 07 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440290
6.
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Genes (Basel)
; 12(2)2021 02 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33562463
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