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Volume 8; Issue 4
Main
Journal of Pediatric Genetics
Volume 8; Issue 4
Journal of Pediatric Genetics
Volume 8; Issue 4
1
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype
Wallace, Alexandra
,
Caruso, Paul
,
Karaa, Amel
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 168 KB
Your tags:
english, 2019
2
Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse
Tyagi, Anudishi
,
Pramanik, Raja
,
Bakhshi, Radhika
,
Vishnubhatla, Sreenivas
,
Bakhshi, Sameer
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 245 KB
Your tags:
english, 2019
3
Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome
LaBrecque, Brett
,
Contreras, Marioxy
,
Giordano, Jessica
,
Parravicini, Elvira
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2019
4
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing
Vázquez-Justes, Daniel
,
Carreño-Gago, Lidia
,
García-Arumi, Elena
,
Traveset, Alicia
,
Montoya, Julio
,
Ruiz-Pesini, Eduardo
,
López, Ricard
,
Brieva, Luis
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2019
5
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
Urzua, Abraham
,
Burattini, Sofia
,
Pinochet, Constanza
,
Benavides, Felipe
,
Repetto, Gabriela M.
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 253 KB
Your tags:
english, 2019
6
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients
El-Bassyouni, Hala T.
,
Hassan, Nagwa
,
Mahfouz, Inas
,
Abd-Elnaby, Azza E.
,
Mostafa, Mostafa I.
,
Tosson, Angie M.S.
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 318 KB
Your tags:
english, 2019
7
Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome
Chukua, Kanokporn
,
Netsawang, Chayanont
,
Padungthai, Kittipoom
,
Khetkham, Thanitchet
,
Chokevittaya, Piyaporn
,
Poonjearansilp, Onapinya
,
Prachuktum, Sariya
,
Kositamongkol, Sudatip
,
Techasatit, Wiliporn
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 194 KB
Your tags:
english, 2019
8
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
Alegra, Taciane
,
Sperb-Ludwig, Fernanda
,
Guarany, Nicole Ruas
,
Ribeiro, Erlane M.
,
Lourenço, Charles M.
,
Kim, Chong Ae
,
Valadares, Eugênia R.
,
Galera, Marcial Francis
,
Acosta, Angelina X.
,
Horovitz, D
Journal:
Journal of Pediatric Genetics
Year:
2019
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2019
9
A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype
Wallace, Alexandra
,
Caruso, Paul
,
Karaa, Amel
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 168 KB
Your tags:
2019
10
Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse
Tyagi, Anudishi
,
Pramanik, Raja
,
Bakhshi, Radhika
,
Vishnubhatla, Sreenivas
,
Bakhshi, Sameer
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 245 KB
Your tags:
2019
11
Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome
LaBrecque, Brett
,
Contreras, Marioxy
,
Giordano, Jessica
,
Parravicini, Elvira
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 129 KB
Your tags:
2019
12
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing
Vázquez-Justes, Daniel
,
Carreño-Gago, Lidia
,
García-Arumi, Elena
,
Traveset, Alicia
,
Montoya, Julio
,
Ruiz-Pesini, Eduardo
,
López, Ricard
,
Brieva, Luis
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 110 KB
Your tags:
2019
13
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
Urzua, Abraham
,
Burattini, Sofia
,
Pinochet, Constanza
,
Benavides, Felipe
,
Repetto, Gabriela M.
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 253 KB
Your tags:
2019
14
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients
El-Bassyouni, Hala T.
,
Hassan, Nagwa
,
Mahfouz, Inas
,
Abd-Elnaby, Azza E.
,
Mostafa, Mostafa I.
,
Tosson, Angie M.S.
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 318 KB
Your tags:
2019
15
Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome
Chukua, Kanokporn
,
Netsawang, Chayanont
,
Padungthai, Kittipoom
,
Khetkham, Thanitchet
,
Chokevittaya, Piyaporn
,
Poonjearansilp, Onapinya
,
Prachuktum, Sariya
,
Kositamongkol, Sudatip
,
Techasatit, Wiliporn
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 194 KB
Your tags:
2019
16
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
Alegra, Taciane
,
Sperb-Ludwig, Fernanda
,
Guarany, Nicole Ruas
,
Ribeiro, Erlane M.
,
Lourenço, Charles M.
,
Kim, Chong Ae
,
Valadares, Eugênia R.
,
Galera, Marcial Francis
,
Acosta, Angelina X.
,
Horovitz, D
Journal:
Journal of Pediatric Genetics
Year:
2019
File:
PDF, 221 KB
Your tags:
2019
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