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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 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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3
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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4
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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5
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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6
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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7
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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8
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
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Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene

Güven, Ayla ; Polat, Seher Darendeliler,Fatma Feyza

Journal of clinical research in pediatric endocrinology, 2017-03, Vol.9 (1), p.85-90 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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9
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
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Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Deeb, Asma ; Al Suwaidi, Hana ; Ibukunoluwa, Fakunle ; Attia, Salima

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.236-240 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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10
Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment
Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment
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Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment

Gül, Ülkü ; Kaçar Bayram, Ayşe ; Kendirci, Mustafa ; Hatipoğlu, Nihal ; Okdemir, Deniz ; Gümüş, Hakan ; Kurtoğlu, Selim

Journal of clinical research in pediatric endocrinology, 2016-09, Vol.8 (3), p.365-367 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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Assunto 

  1. Female  (29)
  2. Male  (24)
  3. Case Report  (22)
  4. Case Studies  (22)
  5. Diagnosis  (19)
  6. Adolescent  (18)
  7. Child  (15)
  8. Case-Control Studies  (15)
  9. Genetic Aspects  (15)
  10. Original  (14)
  11. Follow-Up Studies  (12)
  12. Prognosis  (10)
  13. Dna Mutational Analysis  (10)
  14. Infant  (9)
  15. Gene Mutation  (9)
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