SearchBrowse
Advanced search

Advanced Search

Search Controls

Article Limiters

Phrase
Filters
Main Subjects
Data Type
Language
Country
Authors / Persons
Source
Institute

Search Results

   (201 - 228 of 228)
Journal Articles

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

By: Sánchez, Javier; Chinchón, David; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

By: Dutta, Usha R.; Grant, Struan F. A.; Rajcan-Separovic, E.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-5, 5 p.

Journal Articles

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

By: Pawar, Rajeshwari; Cotter, Philip D.; Mittal, B.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p : A Case Report and Review of the Literature

By: Yan, Liying; Xu, Fang; Ennis, S.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-5, 5 p.

Journal Articles

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

By: Wallerstein, Donna; Byrne, James; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report

By: Chora, Joana Rita; Simões-Teixeira, Helena; Caria, Helena…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-5, 5 p.

Journal Articles

Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

By: Ramos, Marcelo Coelho; Pimenta, Glicínia; DeWan, A.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

By: Aftimos, Salim; George, Alice M.; Grant, Struan F. A.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

By: Ramos, Ester Silveira; Baumer, A.; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Unique Case Reports Associated with Ovarian Failure : Necessity of Two Intact X Chromosomes

By: Turlapati, Raseswari; Gupta, Nalini; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-8, 8 p.

Journal Articles

Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

By: Indah Winarni, Tri; Borodyanskara, Mariya; Shotelersuk, V.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

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

By: Liehr, Thomas; Santos, Neide; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

By: Szvetko, Attila L.; Joy, Chris; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.

Journal Articles

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

By: Kohannim, Omid; Peredo, Jane; Rajcan-Separovic, E.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Monoclonal Gammopathy of Undetermined Significance (MGUS)‎ in a Man with Fragile X-associated TremorAtaxia Syndrome

By: Sumekar, Tanjung A.; Indah Winarni, Tri; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

By: O'Connor, Rachel; Mazzaschi, Roberto L. P.; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Bartsocas-Papas Syndrome : Unusual Findings in the First Reported Egyptian Family

By: Abdalla, E. M.; Bunyan, D. J.; Slavotinek, A. M.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-6, 6 p.

Journal Articles

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

By: Sørensen, J. S.; Hansen, T.; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-3, 3 p.

Journal Articles

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

By: Darcy, Diana C.; Blakemore, A.; Perez de Nanclares, G.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-6, 6 p.

Journal Articles

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

By: Kadam, Vijay; Kadam, Nitin N.; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-6, 6 p.

Journal Articles

MOMO Syndrome with Holoprosencephaly and Cryptorchidism : Expanding the Spectrum of the New Obesity Syndrome

By: Sharda, Sheetal; Marwaha, Ram Kumar; Sazci, A.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-4, 4 p.

Journal Articles

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

By: Wilson, Nicole K. A.; Lee, Yohan; Hermetz, Karen…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

By: Zenteno, J. C.; Mittal, B.; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-3, 3 p.

Journal Articles

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF)‎ : A Case Report

By: Mazzaschi, Roberto L. P.; Hayes, Ian; George, Alice M.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene

By: Gillis, Philippe; Bunyan, D. J.; Ennis, S.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-3, 3 p.

Journal Articles

Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node

By: Sun, Yu; Li, Xiang-Hong; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

By: Svensson, Jannet; Hansen, Torben; Nielsen, Lotte Brøndum…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-5, 5 p.

Journal Articles

Vici Syndrome : A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

By: Aufmuth, Bridgette; Monesson, Stephanie; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2011 (2011), pp.1-4, 4 p.

© 2024 e-Marefa. All Rights Reserved.