Case Reports in Genetics

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Table of Contents

Table of Contents

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 -
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

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