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1.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
J Clin Immunol
; 44(4): 93, 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578360
2.
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38731816
3.
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Int J Mol Sci
; 23(20)2022 Oct 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36292982
4.
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
BMC Med Genet
; 21(Suppl 1): 156, 2020 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33092543
5.
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Pediatr Neurol
; 156: 147-154, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38781723
6.
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
J Pediatr Genet
; 8(2): 58-62, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31061747
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