Case Reports in Genetics

/ Table of Contents: 2014

Table of Contents

Table of Contents: 2014

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 423071
- Case Report

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Sara Domingues | Lara Isidoro | ... | Jorge Sales Marques

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 591516
- Case Report

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Kristi K. Fitzgerald | Abdul Majeed Bhat | ... | Christian Pizarro

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 582016
- Case Report

Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML

Cigdem Aydin | Zafer Cetin | ... | Sibel Berker Karauzum

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 295359
- Case Report

Microduplication of 3p26.3 Implicated in Cognitive Development

Leah Te Weehi | Raj Maikoo | ... | Donald R. Love

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 127258
- Case Report

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

K. M. Usrey | C. A. Williams | ... | M. G. Butler

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 875029
- Case Report

A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype

Florentia Fostira | Nikolaos Tsoukalas | ... | Drakoulis Yannoukakos

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 613863
- Case Report

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Vassos Neocleous | Panayiotis K. Yiallouros | ... | Leonidas A. Phylactou

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 505832
- Case Report

An Interstitial Deletion at 10q26.2q26.3

Ivan Y. Iourov | Svetlana G. Vorsanova | ... | Yuri B. Yurov

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 658570
- Case Report

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Adrian Mc Cormack | Juliet Taylor | ... | Alice M. George

Case Reports in Genetics -
Special Issue
Volume 2014
- Article ID 823504
- Case Report

A Case of False Negative NIPT for Down Syndrome-Lessons Learned

Meagan Smith | Kimberly M. Lewis | ... | Jeannie Visootsak

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 CYP2C933 and VKORC1-1639 AA Genotypes

Mark Johnson | Craig Richard | ... | Robert Kidd

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