Journal of Pediatric Perspectives
JPP; J Ped Perspect
Medical Sciences
https://jpp.mums.ac.ir/
0
3060-7205
en
jalali
0
0
1
gregorian
2019
10
1
7
10
online
1
fulltext
en
Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Genetic diagnosis, Next-generation sequencing, PKHD1, Polycystic kidney Disease
10291
10297
https://jpp.mums.ac.ir/article_13858.html
Leandros
Lazaros
leandroslazaros@yahoo.com
59115
No
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Danai
Palaiologou
dpalaiologou@genlab.gr
59116
No
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Amelia
Pantou
apantou@genlab.gr
59117
No
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Chaido
Koumanzeli
chaidokoumanzeli@gmail.com
59118
No
Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Athens University Medical School, 'P. & A. Kyriakou' Children’s Hospital of Athens, Athens, Greece.
Ioannis
Kapetanakis
jkapetan95@gmail.com
59119
No
Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Athens University Medical School, 'P. & A. Kyriakou' Children’s Hospital of Athens, Athens, Greece.
Emmanouel
Kanavakis
ekanavakis@genlab.gr
59120
Yes
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.