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1.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol
; 44(2): 60, 2024 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38324161
2.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Cerebellum
; 2024 Feb 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38334877
3.
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Am J Med Genet A
; 194(6): e63555, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38326731
4.
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Neuropediatrics
; 55(2): 129-134, 2024 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38365198
5.
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Neuropediatrics
; 2023 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37343586
6.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Genes (Basel)
; 15(3)2024 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38540405
7.
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Brain Dev
; 45(3): 179-184, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446697
8.
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
Genes (Basel)
; 14(9)2023 Sep 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37761957
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