Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 965401
  • - Case Report

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Trent Burgess | Lilian Downie | ... | Rosalynn Pszczola
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 508231
  • - Case Report

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Shaochun Bai | Anthony Lozada | ... | Soma Das
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 205318
  • - Case Report

An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Rosario M. Morales Camacho | Javier Sanchez | ... | Jose A Pérez-Simón
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 906145
  • - Case Report

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

Alexandre Rouen | Capucine Hyon | ... | Jean-Pierre Siffroi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 413743
  • - Case Report

Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes

Mark Johnson | Craig Richard | ... | Robert Kidd
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 496410
  • - Case Report

Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency

M. Vavlukis | A. Eftimov | ... | A. J. Dimovski
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2014
  • - Article ID 516529
  • - Case Report

Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

Marina Laplana | José Luis Royo | ... | Joan Fibla
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 895259
  • - Case Report

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

M. Abreu-González | C. García-Delgado | ... | V. F. Morán-Barroso
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 857926
  • - Case Report

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Amy L. Shackelford | Laura K. Conlin | ... | Sharon L. Wenger
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 504695
  • - Case Report

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

Tovi Anderson | Allison Buterbaugh | ... | Jeannie Visootsak
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 978087
  • - Case Report

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Mariangela Cisternino | Erika Della Mina | ... | Roberto Ciccone
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 364529
  • - Case Report

Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

Neerja Gupta | Anita Kaul | Madhulika Kabra
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 785830
  • - Case Report

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Nirmala D. Sirisena | U. Kalpani S. Wijetunge | ... | Vajira H. W. Dissanayake
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 143781
  • - Case Report

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

Melisa Taboas | Cecilia Fernández | ... | Liliana Dain
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2013
  • - Article ID 149085
  • - Case Report

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Allison Tam | Kit Shan Lee | ... | Thomas P. Slavin
Case Reports in Genetics
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