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Search Results for 'Variant Compiled'

Variant Compiled published presentations and documents on DocSlides.

Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (

Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (

  • ivy
  • 20 Slides

dn. ). 5-year-old female with developmental delay;...

Cancer Genetic Counseling

Cancer Genetic Counseling

  • quinn
  • 53 Slides

North Dakota Cancer Coalition Cancer Conference. M...

Case N arr [GRCh37] 10q22.2

Case N arr [GRCh37] 10q22.2

  • blanko
  • 19 Slides

(76738122-76743018) x3 . 4 year old female with de...

Case F arr [GRCh37] 1p36.33

Case F arr [GRCh37] 1p36.33

  • harmony
  • 13 Slides

(1379519_1435227)x1. 2-month-old female with unila...

Breast cancer treatment according to pathogenic variants in cancer susceptibility genes in a popula

Breast cancer treatment according to pathogenic variants in cancer susceptibility genes in a popula

  • miller
  • 21 Slides

Steven J. Katz MD MPH. Professor of Medicine and H...

Research Sweep of Simplex Breast Cancer Reveals TRP Channel Variants

Research Sweep of Simplex Breast Cancer Reveals TRP Channel Variants

  • susan
  • 1 Slides

Sarah . Brnich. , Gloria T. Haskell, . Daniel . Ma...

Variant Classification and Reclassification

Variant Classification and Reclassification

  • ida
  • 27 Slides

Introduction. This slide presentation covers sever...

COVID-19 UPDATE: OMICRON UPDATE

COVID-19 UPDATE: OMICRON UPDATE

  • fiona
  • 35 Slides

David J. Weber, MD, MPH, FIDSA, FSHEA, FRSM (Londo...

COMPILED BY PROF SUDHIR KUMAR AWASTHI

COMPILED BY PROF SUDHIR KUMAR AWASTHI

  • cady
  • 16 Slides

DEPT OF LIFE SCIENCES. CSJMU. CEREBELLUM- STRUCTU...

BioCuration WG Variant Curation

BioCuration WG Variant Curation

  • ivy
  • 42 Slides

Steven Harrison. June 8 2017. sharrison@bwh.harvar...

Inheritance Compiled by: Jessica Hawley

Inheritance Compiled by: Jessica Hawley

  • erica
  • 21 Slides

Stolen and edited from: IMS Dr. Kyle . Stutts. (S...

EHRI Working Group Panel

EHRI Working Group Panel

  • emma
  • 20 Slides

Lessons Learned & Future Directions. Human Gen...

Hearing Loss CDWG Curation

Hearing Loss CDWG Curation

  • leah
  • 25 Slides

Update. Biocurator. Call. 5.11.17. Marina DiStefa...

Scotland and Northern Ireland General EQA Scheme

Scotland and Northern Ireland General EQA Scheme

  • davis
  • 22 Slides

Educational cases . E1&E2. Dr Kate Struthers ....

Sequence Variant Literature Search Tips and Tricks

Sequence Variant Literature Search Tips and Tricks

  • wilson
  • 21 Slides

Jessica Mester, MS, LCGC. Disclosure. I . am an em...

300 Natasha Strande Ph.D.

300 Natasha Strande Ph.D.

  • badra
  • 21 Slides

Department of Genetics. UNC Chapel Hill. strande@e...

Eggs Compiled and Created By: Ruben Dimech

Eggs Compiled and Created By: Ruben Dimech

  • murphy
  • 33 Slides

Behavioural Objectives. By the end of this PowerPo...

Transcripts: Background and Curation Strategies

Transcripts: Background and Curation Strategies

  • ethlyn
  • 36 Slides

Marina DiStefano, Ph.D.. Clinical Molecular Geneti...

Demographic inference using

Demographic inference using

  • bency
  • 23 Slides

exon. data . Simon Gravel. Stanford University. T...

Are you ready for the genomic age

Are you ready for the genomic age

  • ivy
  • 49 Slides

? . An . introduction to human . genomics. Jacques...

Introduction C9ORF72 Variant-Specific RNA Interference

Introduction C9ORF72 Variant-Specific RNA Interference

  • heavin
  • 1 Slides

Rescues C9-ALS/FTD Molecular Hallmarks . In Vivo. ...

Provider Disclaimer In compliance with continuing education requirements, all presenters must discl

Provider Disclaimer In compliance with continuing education requirements, all presenters must discl

  • megan
  • 65 Slides

Athletico. Physical Therapy. , . event committee ...

ClinGen RASopathy EP Gene Curation

ClinGen RASopathy EP Gene Curation

  • morton
  • 31 Slides

Biocurator Working Group Presentation. 5.10.2018. ...

1 Goals The goal of this talk is to introduce the wonderful concept of a mono-variant, and show how

1 Goals The goal of this talk is to introduce the wonderful concept of a mono-variant, and show how

  • megan
  • 57 Slides

It is a mix of math and art – it is a wonderful ...

Delta Variant and Monoclonal Antibodies: An Update

Delta Variant and Monoclonal Antibodies: An Update

  • ani
  • 29 Slides

Atul Kothari, MD FIDSA. Medical Director Healthcar...

NGS and Bioinformatics

NGS and Bioinformatics

  • teresa
  • 25 Slides

Dr. Ronald Moura. ronaldmoura1989@gmail.com. https...

National Genomic Test Directory Criteria R367

National Genomic Test Directory Criteria R367

  • scarlett
  • 2 Slides

1. Patient has pancreatic cancer age <50 years,...

CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

  • alyssa
  • 16 Slides

No phenotype or inheritance information provided. ...

Imaging for Uncomplicated

Imaging for Uncomplicated

  • luna
  • 33 Slides

Headache. When to Image Based on . Choosing . Wise...

Gene identifier Species Forward

Gene identifier Species Forward

  • adah
  • 4 Slides

primer (5'-3'). Reverse primer (5'-3'). Dact3. Hum...

MLA TIPS Compiled from UWF Writing Lab Handouts and the

MLA TIPS Compiled from UWF Writing Lab Handouts and the

  • edolie
  • 31 Slides

MLA Handbook for Writers of Research Papers. , Sev...

Li- Fraumeni Syndrome Wendy Kohlmann, MS, CGC

Li- Fraumeni Syndrome Wendy Kohlmann, MS, CGC

  • HappyHusky
  • 17 Slides

Licensed Genetic Counselor. University of Utah . H...

Using the whole read: Structural Variation detection with RPSR

Using the whole read: Structural Variation detection with RPSR

  • MsPerfectionist
  • 29 Slides

Presented by Derek Bickhart. Presentation Outline....

Cancer Registration in the Era of Genomics: Integrating Germline and Somatic Genetic Data into the

Cancer Registration in the Era of Genomics: Integrating Germline and Somatic Genetic Data into the

  • SoulfulDreamer
  • 20 Slides

Dr Fiona McRonald 11. th. June 2019. N...

Looking ahead: Genomic Laboratory Hub

Looking ahead: Genomic Laboratory Hub

  • LaughsALot
  • 22 Slides

Rachel Butler, Head of Bristol Genetics Laboratory...

BioCuration Call: Sequence Variant Interpretation WG Update

BioCuration Call: Sequence Variant Interpretation WG Update

  • Littlespud
  • 37 Slides

Steven Harrison (. sharrison@bwh.harvard.edu. ). M...

LHON/LHON plus Andrea Gropman, M.D

LHON/LHON plus Andrea Gropman, M.D

  • SunnySailor
  • 28 Slides

., FAAP, FACMG, FANA. Children’s National Health...

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca

  • VanillaSky
  • 9 Slides

v. 3.2 T-type channel activity. Robin N. Stringer,...

Case P arr [GRCh37] 17q21.2

Case P arr [GRCh37] 17q21.2

  • Princecharming
  • 12 Slides

(39529437_39545915) x3 mat. 10-year-old female wit...

Sequence Feature Variant Type and Evolutionary Trajectory Analysis using the Influenza Research Dat

Sequence Feature Variant Type and Evolutionary Trajectory Analysis using the Influenza Research Dat

  • Dragonlord
  • 73 Slides

19 July 2011. Richard H. Scheuermann, Ph.D.. Depar...

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