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Papers in Case Reports in Genetics

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  1. 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar CasesCase Reports in Genetics · 2015
  2. 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly RegionCase Reports in Genetics · 2015
  3. Meningocele in a Congolese Female with Beckwith-Wiedemann PhenotypeCase Reports in Genetics · 2014
  4. Mandibuloacral Dysplasia Caused byLMNAMutations and Uniparental DisomyCase Reports in Genetics · 2014
  5. A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)Case Reports in Genetics · 2014
  6. NovelSMAD3Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic AneurysmCase Reports in Genetics · 2014
  7. 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+ CMLCase Reports in Genetics · 2014
  8. Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan GeneCase Reports in Genetics · 2014
  9. Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central AfricaCase Reports in Genetics · 2014
  10. Apparent Homozygosity of p.Phe508del inCFTRdue to a Large Gene Deletion of Exons 4–11Case Reports in Genetics · 2014
  11. Alsin Related Disorders: Literature Review and Case Study with Novel MutationsCase Reports in Genetics · 2014
  12. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome MarkerCase Reports in Genetics · 2014
  13. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical FeaturesCase Reports in Genetics · 2014
  14. A Case of False Negative NIPT for Down Syndrome-Lessons LearnedCase Reports in Genetics · 2014
  15. A Paternally InheritedBRCA1Mutation Associated with an Unusual Aggressive Clinical PhenotypeCase Reports in Genetics · 2014
  16. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype DelineationCase Reports in Genetics · 2014
  17. A Rare, Recurrent,De Novo14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual DisabilityCase Reports in Genetics · 2014
  18. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic FeaturesCase Reports in Genetics · 2014
  19. Microduplication of 3p26.3 Implicated in Cognitive DevelopmentCase Reports in Genetics · 2014
  20. Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?Case Reports in Genetics · 2013
  21. Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V DeficiencyCase Reports in Genetics · 2013
  22. Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation inACVR1Gene: A Case Report and Review of LiteratureCase Reports in Genetics · 2013
  23. Isolated p.H62L Mutation in theCYP21A2Gene in a Simple Virilizing 21-Hydroxylase Deficient PatientCase Reports in Genetics · 2013
  24. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication SyndromeCase Reports in Genetics · 2013
  25. Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in PlacentaCase Reports in Genetics · 2013
  26. Idiopathic Central Precocious Puberty Associated with 11 MbDe NovoDistal Deletion of the Chromosome 9 Short ArmCase Reports in Genetics · 2013
  27. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital MalformationsCase Reports in Genetics · 2013
  28. Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial DeletionCase Reports in Genetics · 2013
  29. Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from IndiaCase Reports in Genetics · 2013
  30. Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” SyndromesCase Reports in Genetics · 2013
  31. Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X SyndromeCase Reports in Genetics · 2012
  32. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 GenesCase Reports in Genetics · 2012
  33. Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case ReportsCase Reports in Genetics · 2012
  34. Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility PhenotypesCase Reports in Genetics · 2012
  35. Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X ChromosomesCase Reports in Genetics · 2012
  36. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian FamilyCase Reports in Genetics · 2012
  37. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)Case Reports in Genetics · 2012
  38. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and AmenorrheaCase Reports in Genetics · 2012
  39. Extra Copies of der(21)t(12;21) plus Deletion ofETV6Gene due to dic(12;18) in B-Cell Precursor ALL with Poor OutcomeCase Reports in Genetics · 2012
  40. ADe NovoWhole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK InsufficiencyCase Reports in Genetics · 2011
  41. Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of theCYP21A2GeneCase Reports in Genetics · 2011
  42. Intrafamilial Variability of Early-Onset Diabetes due to anINSMutationCase Reports in Genetics · 2011
  43. Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian FamilyCase Reports in Genetics · 2011
  44. Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia SyndromeCase Reports in Genetics · 2011