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Education Full Text (H.W. Wilson)

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SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

• Authors : Ceylan, Ahmet Cevdet (AUTHOR); Erdem, Haktan Bağış (AUTHOR); Şahin, İbrahim (AUTHOR)

Subjects: SPINAL muscular atrophy; MEDICAL genetics; SINGLE nucleotide polymorphisms

• Source: Neurological Sciences. Sep2020, Vol. 41 Issue 9, p2575-2584. 10p. 1 Chart, 5 Graphs.

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Education Full Text (H.W. Wilson)

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Pyridoxine/Valproic-acid: Lack of efficacy: case report.

Subjects: *MEDICAL genetics; *MEDICAL genomics; *INFANTILE spasms

• Source: Reactions Weekly. 10/26/2024, Vol. 2031 Issue 1, p344-344. 1p.

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Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

• Authors : Martínez-Barrios, Estefanía^1,2,3 (AUTHOR); Greco, Andrea^1,2 (AUTHOR); Cruzalegui, José^1,2 (AUTHOR)

Subjects: *GENETIC carriers; *MEDICAL genetics; *MEDICAL genomics

• Source: Human Genetics. Dec2024, Vol. 143 Issue 12, p1499-1508. 10p.

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Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

• Authors : Cazzato, Francesca¹ (AUTHOR); Coll, Mònica² (AUTHOR); Grassi, Simone³ (AUTHOR)

Subjects: *SUDDEN infant death syndrome; *MEDICAL genetics; *CARDIAC arrest

• Source: International Journal of Legal Medicine. Nov2024, Vol. 138 Issue 6, p2229-2237. 9p.

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A Test-Replicate Approach to Candidate Gene Research on Addiction and Externalizing Disorders: A Collaboration Across Five Longitudinal Studies.

• Authors : Samek, Diana; Bailey, Jennifer; Hill, Karl

Subjects: PHENOTYPES; MEDICAL genetics; GENOTYPE-environment interaction

• Source: Behavior Genetics. Sep2016, Vol. 46 Issue 5, p608-626. 19p.

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An integrated map of structural variation in 2,504 human genomes.

• Authors : Sudmant, Peter H.; Rausch, Tobias; Gardner, Eugene J.

Subjects: HUMAN genetic variation; MEDICAL genetics; NUCLEOTIDE sequencing

• Source: Nature. 10/1/2015, Vol. 526 Issue 7571, p75-81. 7p. 1 Chart, 13 Graphs.

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A commentary on the promise of whole-exome sequencing in medical genetics.

• Authors : Kaname, Tadashi¹; Yanagi, Kumiko¹; Naritomi, Kenji¹

Subjects: *MEDICAL genetics; *NUCLEOTIDE sequence; *HUMAN genetics

• Source: Journal of Human Genetics. Mar2014, Vol. 59 Issue 3, p117-118. 2p.

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Germline Variant Interpretation in Children with Severe Sepsis.

• Authors : Prince, Benjamin T.^1,2 (AUTHOR) ; Varga, Elizabeth A.³ (AUTHOR); McBride, Kim L.^2,4 (AUTHOR)

Subjects: *SEPSIS; *MEDICAL genetics; *NUCLEOTIDE sequencing

• Source: Journal of Clinical Immunology. Feb2023, Vol. 43 Issue 2, p312-314. 3p.

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