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1.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34515416
2.
More accurate fetal diagnostics. / Mer treffsikker fosterdiagnostikk.
Tidsskr Nor Laegeforen
; 141(2021-14)2021 10 12.
Artículo
en Nor
| MEDLINE | ID: mdl-34641655
3.
Correction: More accurate fetal diagnostics. / Rettelse: Mer treffsikker fosterdiagnostikk.
Tidsskr Nor Laegeforen
; 141(16)2021 11 09.
Artículo
en Nor
| MEDLINE | ID: mdl-34758600
4.
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Nat Commun
; 14(1): 6770, 2023 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37914730
5.
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.
Clin Case Rep
; 6(1): 91-95, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29375845
6.
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmol
; 95(3): 240-246, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27775217
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