Case Reports in Genetics

Table of Contents: 2017

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 9146507
  • - Case Report

A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Julie R. Whittington | Aaron T. Poole | ... | Mary B. Munn
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 3740524
  • - Case Report

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

Ozgul Bulut | Zeynep Ince | ... | Asuman Coban
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 3941483
  • - Case Report

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Samuel Bloor | Dinesh Giri | ... | Senthil Senniappan
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 2721615
  • - Case Report

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

Michael Zech | Katharina Poustka | ... | Juliane Winkelmann
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 6236714
  • - Case Report

Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer

Sofia Garcia | Michael Schuh | ... | Paldeep S. Atwal
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 8984951
  • - Case Report

Methylmalonic Acidemia with Novel MUT Gene Mutations

Inusha Panigrahi | Savita Bhunwal | ... | Simranjeet Singh
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 8639617
  • - Case Report

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

Ana Isabel Sánchez | Jorge Armando Rojas
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 6390545
  • - Case Report

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Hugo Mendieta-Zerón | Angélica Jiménez-Rosales | ... | Silvia Jiménez-Morales
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 9086408
  • - Case Report

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature

William S. Baek | Umut Aypar
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 4397434
  • - Case Report

What Drives Embryo Development? Chromosomal Normality or Mitochondria?

A. Bayram | I. Elkhatib | ... | H. M. Fatemi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 4894515
  • - Case Report

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

J. Carter | H. Brittain | ... | J. J. Waters
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 9327169
  • - Case Report

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

A. M. Ali | R. M. Mbwasi | ... | M. C. J. Dekker
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 5181624
  • - Case Report

Neoplasia in Cri du Chat Syndrome from Italian and German Databases

Andrea Guala | Marianna Spunton | ... | Cesare Danesino
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 9184265
  • - Case Report

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Erin Conboy | Filippo Vairo | ... | Pavel Pichurin
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2017
  • - Article ID 2348045
  • - Case Report

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Elichilia R. Shao | Lucas F. Kiyegi | ... | Ben C. J. Hamel
Case Reports in Genetics
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