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Refinado por: Nome da Publicação: Journal Of Clinical Research In Pediatric Endocrinology remover idioma: Turco remover
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1
Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome
Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome
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Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

Van Hulle, Severine ; Craen, Margarita ; Callewaert, Bert ; Joustra, Sjoerd ; Oostdijk, Wilma ; Losekoot, Monique ; Wit, Jan Maarten ; Turgeon, Marc Olivier ; Bernard, Daniel J ; De Schepper, Jean

Journal of clinical research in pediatric endocrinology, 2016-03, Vol.8 (1), p.86-91 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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2
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
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A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Prochazkova, Dagmar ; Hruba, Zuzana ; Konecna, Petra ; Skotakova, Jarmila ; Fajkusova, Lenka

Journal of clinical research in pediatric endocrinology, 2016-12, Vol.8 (4), p.482-483 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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3
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report
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A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

Altıncık, Ayça ; Schlingmann, Karl Peter ; Tosun, Mahya Sultan

Journal of clinical research in pediatric endocrinology, 2016-03, Vol.8 (1), p.101-104 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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4
Long-term Outcome after Robotic-assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes Two Case Reports
Long-term Outcome after Robotic-assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes Two Case Reports
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Long-term Outcome after Robotic-assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes Two Case Reports

Calcaterra, Valeria ; Cena, Hellas ; Fonte, Maria Luisa ; De Amici, Mara ; Vandoni, Matteo ; Albanesi, Michela ; Pelizzo, Gloria

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.250-256 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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5
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
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A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

Dursun, Fatma ; Mohamoud, Hussein Sheikh Ali ; Karim, Noreen ; Naeem, Muhammad ; Jelani, Musharraf ; Kırmızıbekmez, Heves

Journal of clinical research in pediatric endocrinology, 2016-12, Vol.8 (4), p.472-477 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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6
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
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A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene

Keskin, Melikşah ; Muratoğlu Şahin, Nursel ; Kurnaz, Erdal ; Bayramoğlu, Elvan ; Savaş Erdeve, Şenay ; Aycan, Zehra ; Çetinkaya, Semra Darendeliler,Fatma Feyza

Journal of clinical research in pediatric endocrinology, 2017-03, Vol.9 (1), p.91-94 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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7
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
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Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

Çelmeli, Gamze ; Türkkahraman, Doğa ; Çürek, Yusuf ; Houghton, Jayne ; Akçurin, Sema ; Bircan, İffet Darendeliler,Fatma Feyza

Journal of clinical research in pediatric endocrinology, 2017-03, Vol.9 (1), p.80-84 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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8
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
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Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Hoppmann, Julia ; Gesing, Julia ; Silve, Caroline ; Leroy, Chrystel ; Bertsche, Astrid ; Hirsch, Franz Wolfgang ; Kiess, Wieland ; Pfäffle, Roland ; Schuster, Volker Darendeliler,Fatma Feyza

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (4), p.360-365 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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9
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome
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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan, Nusrat ; Dandan, Waleed ; Al Hassani, Noura ; Hadi, Suha

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.246-249 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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10
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant
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Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant

Üstyol, Ala ; Atabek, Mehmet Emre ; Taylor, Norman ; Yeung, Matthew Chun-Wing ; Chan, Angel O K

Journal of clinical research in pediatric endocrinology, 2016-09, Vol.8 (3), p.356-359 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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