Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 453105
  • - Case Report

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

Teva Brender | Donna Wallerstein | ... | Robert Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 347342
  • - Case Report

Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Patrick Lin | Sheela Raikar | ... | Katryn N. Furuya
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 517678
  • - Case Report

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Carolina Sismani | Georgia Christopoulou | ... | Voula Velissariou
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 321014
  • - Case Report

Exceptional Complex Chromosomal Rearrangements in Three Generations

Hannie Kartapradja | Nanis Sacharina Marzuki | ... | Alida Roswita Harahap
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2015
  • - Article ID 943905
  • - Case Report

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Guillaume Jedraszak | Aline Receveur | ... | Gilles Morin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 989425
  • - Case Report

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Sébastien Mbuyi-Musanzayi | Toni Lubala Kasole | ... | Koenraad Devriendt
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 470830
  • - Case Report

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Giorgia Mandrile | Eleonora Di Gregorio | ... | Alfredo Brusco
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 946010
  • - Case Report

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

Sun-Mi Cho | Bo Young Hong | ... | Kyung-A Lee
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 921240
  • - Case Report

A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)

Mohamad Khawandanah | Bradley Gehrs | ... | Mohamad Cherry
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 517091
  • - Case Report

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Javier Sánchez | Ana Peciña | ... | Salud Borrego
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 691515
  • - Case Report

Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Filipa Flor-de-Lima | Mafalda Sampaio | ... | Miguel Leão
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 365031
  • - Case Report

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Sébastien Mbuyi-Musanzayi | Aimé Lumaka | ... | Koenraad Devriendt
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 273423
  • - Case Report

Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Daryl Graham | Megan Gooch | ... | John D’Orazio
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 517952
  • - Case Report

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Pankaj Thakur | Paul Speer | Aleksandar Rajkovic
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 248561
  • - Case Report

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Gulden Diniz | Hulya Tosun Yildirim | ... | Ajlan Tukun
Case Reports in Genetics
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