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Volume 7; Issue 3
Main
Journal of Pediatric Genetics
Volume 7; Issue 3
Journal of Pediatric Genetics
Volume 7; Issue 3
1
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family
Camacho, Jhon
,
Gutierrez, Luz
,
Rubio, Cladelis
,
Suárez, Alfonso
,
Amaya, Angie
Journal:
Journal of Pediatric Genetics
Year:
2018
File:
PDF, 112 KB
Your tags:
2018
2
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A
Efthymiou, Stephanie
,
Salpietro, Vincenzo
,
Bettencourt, Conceicao
,
Houlden, Henry
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2018
3
A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia
Barış, Zeren
,
Özçay, Figen
,
Olcay, Lale
,
Ceylaner, Serdar
,
Sezer, Taner
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 162 KB
Your tags:
english, 2018
4
22q11.2 Microduplication: An Enigmatic Genetic Disorder
Kylat, Ranjit
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 230 KB
Your tags:
english, 2018
5
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy
Radha Rama Devi, Akella
,
Lingappa, Lokesh
,
Naushad, Shaik
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 340 KB
Your tags:
english, 2018
6
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family
Camacho, Jhon
,
Gutierrez, Luz
,
Rubio, Cladelis
,
Suárez, Alfonso
,
Amaya, Angie
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2018
7
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)
Costain, Gregory
,
Inbar-Feigenberg, Michal
,
Saleh, Maha
,
Yaniv-Salem, Shimrit
,
Ryan, Greg
,
Morgen, Eric
,
Goh, Elaine
,
Nishimura, Gen
,
Chitayat, David
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 170 KB
Your tags:
english, 2018
8
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1
Shukla, Anju
,
Kaur, Parneet
,
Girisha, Katta
Journal:
Journal of Pediatric Genetics
Year:
2018
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2018
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