Case Reports in Genetics

Table of Contents

  • 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
  • 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
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