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Volume 8; Issue 2
Main
Journal of Pediatric Genetics
Volume 8; Issue 2
Journal of Pediatric Genetics
Volume 8; Issue 2
1
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation
Önder Yılmaz, Hale
,
Topak, Duran
,
Yılmaz, Orkun
,
Çakmaklı, Seda
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 204 KB
Your tags:
english, 2019
2
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan
Sen, Kuntal
,
Felice, Michael
,
Bannick, Allison
,
Colombo, Roberto
,
Conway, Robert
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2019
3
Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series
Canter, Jennifer
,
Rao, Vinod
,
Palusci, Vincent
,
Kronn, David
,
Manaster, Michal
,
Altman, Robin
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2019
4
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families
Rudenskaya, Galina
,
Marakhonov, Andrey
,
Shchagina, Olga
,
Lozier, Ekaterina
,
Dadali, Elena
,
Akimova, Irina
,
Petrova, Nika
,
Konovalov, Fedor
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 207 KB
Your tags:
english, 2019
5
Early-Onset Marfan Syndrome: A Case Series
Ardhanari, Mohanageetha
,
Barbouth, Deborah
,
Swaminathan, Sethuraman
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 137 KB
Your tags:
english, 2019
6
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population
González-del Angel, Ariadna
,
Fernández-Hernández, Liliana
,
Sánchez-Verdiguel, Iraís
,
González-Núñez, Aidy
,
Martínez-Cruz, Víctor
,
Sánchez, Carmen
,
Moreno-Rojas, Rosario
,
Alcántara-Ortigoza, Miguel Ang
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2019
7
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation
Önder Yılmaz, Hale
,
Topak, Duran
,
Yılmaz, Orkun
,
Çakmaklı, Seda
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 204 KB
Your tags:
2019
8
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan
Sen, Kuntal
,
Felice, Michael
,
Bannick, Allison
,
Colombo, Roberto
,
Conway, Robert
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 78 KB
Your tags:
2019
9
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency
Satapathy, Amit
,
Pandey, Swati
,
Chaudhary, Madhumita
,
Bagga, Arvind
,
Kabra, Madhulika
,
Uwe, Kornak
,
Gupta, Neerja
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 190 KB
Your tags:
2019
1
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