Case Reports in Genetics

Table of Contents: 2014

  • 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 -
  • Special Issue
  • Volume 2014
  • - Article ID 691630
  • - Case Report

Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

F. Malvestiti | C. Agrati | ... | F. R. Grati
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 264947
  • - Case Report

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Jennifer L. Roberts | Stephanie K. Gandomi | ... | Merlin G. Butler
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 739513
  • - Case Report

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism

Takol Chareonsirisuthigul | Suchin Worawichawong | ... | Budsaba Rerkamnuaychoke
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 530134
  • - Case Report

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

Almira Zada | Farmaditya E. P. Mundhofir | ... | Nicole de Leeuw
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 597314
  • - Case Report

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Roberto L. P. Mazzaschi | Juliet Taylor | ... | Alice M. George
Case Reports in Genetics
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