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Works matching IS 00221333 AND DT 2024 AND VI 103 AND IP 2

Results: 5

1

Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant.

Published in:

Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01476-8

By:

Cotrina-Vinagre, Francisco Javier;
Rodríguez-García, María Elena;
Del Pozo-Filíu, Lucía;
Quijada-Fraile, Pilar;
Martínez-Azorín, Francisco

Publication type:

Article

2

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Published in:

Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01477-7

By:

Sait, Haseena;
Pandey, Manmohan;
Phadke, Shubha R.

Publication type:

Article

3

A global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia.

Published in:

Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01475-9

By:

Bardakci, Fevzi;
Abdelgadir, Abdelmuhsin;
Alam, Md Jahoor;
Biyik, Haci Halil;
Siddiqui, Arif Jamal;
Badraoui, Riadh;
Adnan, Mohd;
Alreshidi, Mousa;
Koc, Atakan;
Snoussi, Mejdi

Publication type:

Article

4

Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease.

Published in:

Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01474-w

By:

VALDEZ-VELAZQUEZ, LAURA L.;
OCHOA-DÍAZ-LÓPEZ, HÉCTOR;
DELGADO-ENCISO, IVÁN;
RANGEL-VILLALOBOS, HÉCTOR;
RODRÍGUEZ-SÁNCHEZ, IRÁM P.;
GARCÍA-MIRANDA, ROSARIO;
VELÁZQUEZ-RAMÍREZ, DOIREYNER DANIEL;
REYES-MÉNDEZ, NANCY A.;
BARAJAS-SAUCEDO, CARLOS EDUARDO;
MARTÍNEZ-FIERRO, MARGARITA L.

Publication type:

Article

5

Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer.

Published in:

Journal of Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1007/s12041-024-01473-x

By:

Almasi, Sarina;
Haghnazari, Lida;
Hosseini, Seyedeh Ozra;
Rezvani, Nayebali

Publication type:

Article