Search

Your search keyword '"MICRODELETION"' showing total 1,196 results

Search Constraints

Start Over You searched for: Descriptor "MICRODELETION" Remove constraint Descriptor: "MICRODELETION"
1,196 results on '"MICRODELETION"'

Search Results

1. Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy platform.

2. A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

3. Investigational Management for a Positive NIPT Result - Case Report

4. Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review.

5. Ileal Dysbiosis Is Associated with Increased Acoustic Startle in the 22q11.2 Microdeletion Mouse Model of Schizophrenia.

6. Investigational Management for a Positive NIPT Result - Case Report.

7. Extended application of PGT-M strategies for small pathogenic CNVs.

8. A nematode model to evaluate microdeletion phenotype expression.

9. Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review.

10. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

11. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation.

12. Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

13. A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.

14. Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy

15. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

17. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

18. Experimental investigation of biopolymer efficiency of double selective strain for oil extraction from petroleum reservoirs using microdeletion injection.

19. Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.

20. Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy.

21. Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.

22. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.

23. Genetic inconsistency at the D6S1043 locus caused by microdeletion at 6q15.

24. Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.

25. Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome

26. Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature.

27. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.

28. Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review.

29. Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome

30. Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region

31. Extended application of BACs-on-Beads technique in prenatal diagnosis

32. Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature

33. The effect of azoospermia factor microdeletions on intracytoplasmic sperm injection results in azoospermia patients.

34. Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.

35. Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.

36. A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

37. PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease.

38. Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience

39. Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

40. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

41. Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

42. Extended application of BACs-on-Beads technique in prenatal diagnosis.

43. Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature.

44. A comprehensive list of human microdeletion and microduplication syndromes.

45. A comprehensive list of human microdeletion and microduplication syndromes

48. The role of behavioral phenotyping in establishing a diagnosis of pseudo-angelman syndrome

49. Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

50. A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Catalog

Books, media, physical & digital resources