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Volume 8; Issue 3
Main
Journal of Pediatric Genetics
Volume 8; Issue 3
Journal of Pediatric Genetics
Volume 8; Issue 3
1
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis
Vásquez Sotomayor, Flor
,
Abarca-Barriga, Hugo Hernán
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 375 KB
Your tags:
english, 2019
2
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report
Jain, Angita
,
Atwal, Paldeep S.
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2019
3
A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
Chatmethakul, Trassanee
,
Phaltas, Rozaleen
,
Minzes, Gwen
,
Martinez, Jose
,
Bhat, Ramachandra
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 247 KB
Your tags:
english, 2019
4
Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease
Kumru, Burcu
,
Oztürk Hismi, Burcu
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 84 KB
Your tags:
2019
5
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation
del Pino, Mariana
,
Aza-Carmona, Miriam
,
Medino-Martín, David
,
Gomez, Abel
,
Heath, Karen E.
,
Fano, Virginia
,
Obregon, María Gabriela
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2019
6
A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran
Taleb, Hasan
,
Afshar, Ahmadreza
,
Abdi rad, Isa
,
Tabrizi, Ali
,
Ghazani, Reza Babaei
,
Bateni, Amin
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 278 KB
Your tags:
english, 2019
7
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Gupta, Neerja
,
Correa, Alec Reginald Errol
,
Jana, Manisha
,
Kabra, Madhulika
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 298 KB
Your tags:
english, 2019
8
A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers
Nielsen, Cory
,
Ratiu, Ileana
,
Esfandiarei, Mitra
,
Chen, Angela
,
Selamet Tierney, Elif Seda
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2019
9
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
Mansour, Hicham
,
Sabbagh, Sandra
,
Bizzari, Sami
,
El-Hayek, Stephany
,
Chouery, Eliane
,
Gambarini, Alicia
,
Gencik, Martin
,
Mégarbané, André
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 205 KB
Your tags:
english, 2019
10
A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases
Gumus, Evren
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2019
11
A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases
Gumus, Evren
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 210 KB
Your tags:
2019
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