Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pilar Guatibonza Moreno"'
Autor:
Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnor
Externí odkaz:
https://doaj.org/article/8db6644c11c4473ea480bba4e547fa50
Autor:
Peter Bauer, Luba M. Pardo, Pilar Guatibonza Moreno, Tobias Böttcher, Jorge Pinto Basto, Aida Bertoli Avella
Publikováno v:
Molecular Genetics and Metabolism. 138:107025
Autor:
Erzsebet, Kovesdi, Reka, Ripszam, Etelka, Postyeni, Emese Beatrix, Horvath, Anna, Kelemen, Beata, Fabos, Viktor, Farkas, Kinga, Hadzsiev, Katalin, Sumegi, Lili, Magyari, Pilar Guatibonza, Moreno, Peter, Bauer, Bela, Melegh
Publikováno v:
Genes
Background: Approximately fifteen percent of patients with tuberous sclerosis complex (TSC) phenotype do not have any genetic disease-causing mutations which could be responsible for the development of TSC. The lack of a proper diagnosis significantl