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1. Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities

4. Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

6. O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes

8. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

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

10. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

11. Central 22q11.2 deletion ( <scp>LCR22 B‐D</scp> ) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of <scp> CRKL </scp> haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome

13. 14q32.11 microdeletion including <scp> CALM1 </scp> , <scp> TTC7B </scp> , <scp> PSMC1 </scp> , and <scp> RPS6KA5 </scp> : A new potential cause of developmental and language delay in three unrelated patients

14. 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

15. 2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics

16. Pathogenic paternally inherited <scp> NLGN4X </scp> deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

17. The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

18. Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

19. Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

20. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

21. Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot

22. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

23. Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy

25. Diversity, Inclusion and Equity in Medical Genetics: The Time is Now

26. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

27. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

28. Gene-Environment Regulation of Chamber-Specific Maturation during Hypoxemic Perinatal Circulatory Transition

30. Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms

31. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

33. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

35. Triple Hit Lymphoma

36. 20. A resource for our clinical genomics community: The Compendium of Cancer Genome Aberrations (CCGA)

37. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

38. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

39. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

40. Duodenal atresia in 17q12 microdeletion includingHNF1B: A new associated malformation in this syndrome

41. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

42. S18THE IMPLEMENTATION, DIAGNOSTIC YIELD AND CLINICAL OUTCOME OF GENETIC TESTING IN INPATIENT CHILD AND ADOLESCENT PSYCHIATRY

43. Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

44. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

45. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

46. B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis

47. Frequency of 5′IGH deletions in B-cell chronic lymphocytic leukemia

48. Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?

49. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

50. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities

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