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Volume 2012
Main
Case Reports in Genetics
Volume 2012
Case Reports in Genetics
Volume 2012
1
Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea
Dutta, Usha R.
,
Pidugu, Vijaya Kumar
,
Dalal, Ashwin
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 2.85 MB
Your tags:
english, 2012
2
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
Sheth, Jayesh J.
,
Ankleshwaria, Chitra M.
,
Pawar, Rajeshwari
,
Sheth, Frenny J.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 1.44 MB
Your tags:
english, 2012
3
Sickle Retinopathy in a Person with Hemoglobin S/New York Disease
Calder, Donovan
,
Etienne-Julan, Maryse
,
Romana, Marc
,
Watkins, Naomi
,
Knight-Madden, Jennifer M.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 662 KB
Your tags:
english, 2012
4
Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome
Sheth, Frenny
,
Gohel, Naresh
,
Liehr, Thomas
,
Akinde, Olakanmi
,
Desai, Manisha
,
Adeteye, Olawaleye
,
Sheth, Jayesh
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2012
5
Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome
Hernandes, Marina Araújo Fonzar
,
Marques-Salles, Terezinha de Jesus
,
Mkrtchyan, Hasmik
,
Soares-Ventura, Eliane Maria
,
Leite, Edinalva Pereira
,
Muniz, Maria Tereza Cartaxo
,
Cornélio, Maria Teresa Marqu
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 434 KB
Your tags:
english, 2012
6
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Mende, Rose H.
,
Drake, David P.
,
Olomi, Raimos M.
,
Hamel, Ben C. J.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 434 KB
Your tags:
english, 2012
7
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
Winarni, Tri Indah
,
Schneider, Andrea
,
Borodyanskara, Mariya
,
Hagerman, Randi J.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 73 KB
Your tags:
english, 2012
8
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
de León Ojeda, Norma Elena
,
Soriano-Torres, Michel
,
Cabrera, Mercedes J.
,
Benítez Ramos, Dunia Bárbara
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 963 KB
Your tags:
english, 2012
9
Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation
Baruffi, Marcelo Razera
,
de Souza, Deise Helena
,
Bicudo da Silva, Rosana Aparecida
,
Ramos, Ester Silveira
,
Moretti-Ferreira, Danilo
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 1.40 MB
Your tags:
english, 2012
10
Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes
Rao Kandukuri, Lakshmi
,
Padmalatha, Venkata
,
Kanakavalli, Murthy
,
Turlapati, Raseswari
,
Swapna, Mangalipally
,
Vidyadhari, Metuku
,
Saranaya, Govindaraghavan
,
Himaja, Kattera
,
Deenadayal, Mamata
,
Kumar
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 1.09 MB
Your tags:
english, 2012
11
Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis
Bastos, Elenice Ferreira
,
Silva, Lidiane Alice
,
Ramos, Marcelo Coelho
,
Pimenta, Glicínia
,
Cortez, Paulo Ivo
,
de Lucena, Stella Beatriz Gonçalves
,
Fernandez, Teresa de Souza
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 454 KB
Your tags:
english, 2012
12
Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
Szvetko, Attila
,
Martin, Nicole
,
Joy, Chris
,
Hayward, Andrea
,
Watson, Bob
,
Cary, Andrew
,
Withers, Stephen
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 147 KB
Your tags:
english, 2012
13
Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature
Wei, Yuan
,
Gao, Xuefeng
,
Yan, Liying
,
Xu, Fang
,
Li, Peining
,
Zhao, Yangyu
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2012
14
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
Sheth, F.
,
Akinde, O. R.
,
Datar, C.
,
Adeteye, O. V.
,
Sheth, J.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 1.58 MB
Your tags:
english, 2012
15
Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient
Mundhofir, Farmaditya E. P.
,
Yntema, Helger G.
,
van der Burgt, Ineke
,
Hamel, Ben C. J.
,
Faradz, Sultana M. H.
,
van Bon, Bregje W. M.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 866 KB
Your tags:
english, 2012
16
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Sánchez, Javier
,
García-Díaz, Lutgardo
,
Chinchón, David
,
Antiñolo, Guillermo
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 594 KB
Your tags:
english, 2012
17
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
Garabedian, Matthew J.
,
Wallerstein, Donna
,
Medina, Nubia
,
Byrne, James
,
Wallerstein, Robert J.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 740 KB
Your tags:
english, 2012
18
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
Al-Murrani, Amel
,
Ashton, Fern
,
Aftimos, Salim
,
George, Alice M.
,
Love, Donald R.
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 1.32 MB
Your tags:
english, 2012
19
Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
Chora, Joana Rita
,
Simões-Teixeira, Helena
,
Matos, Tiago Daniel
,
Martins, Jorge Humberto
,
Alves, Marisa
,
Ferreira, Raquel
,
Silva, Luís
,
Ribeiro, Carlos
,
Fialho, Graça
,
Caria, Helena
Journal:
Case Reports in Genetics
Year:
2012
Language:
english
File:
PDF, 2.13 MB
Your tags:
english, 2012
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