Explore
Upload

DocSlides is a free service to upload presentations and documents.

Upload Now

Search Results for 'Variant Fhir'

Variant Fhir published presentations and documents on DocSlides.

Introduction C9ORF72 Variant-Specific RNA Interference

Introduction C9ORF72 Variant-Specific RNA Interference

  • heavin
  • 1 Slides

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

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...

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...

Use of in silico algorithms for variant interpretation

Use of in silico algorithms for variant interpretation

  • MommaBear
  • 19 Slides

ACMG/AMP Variant . Interpretation . guidelines . (...

CPIC guideline in progress

CPIC guideline in progress

  • CharmingCheeks
  • 35 Slides

MT-RNR1/aminoglycosides-in review (just resubmitte...

An Approach to Hemoglobinopathy Investigations

An Approach to Hemoglobinopathy Investigations

  • Shadowlord
  • 54 Slides

#. everythingyouneedtoknow. Dr. . Tish O’Reilly,...

Pseudo DNA Sequence Generation

Pseudo DNA Sequence Generation

  • Princecharming
  • 26 Slides

of . Non-coding Distributions . using . Stream Cip...

Highlighting Excellent Research at ACEGID

Highlighting Excellent Research at ACEGID

  • MusicalMadness
  • 34 Slides

Judith U. Oguzie. , DVM. PhD Research Fellow, Worl...

Enabling Complex Multi-variant Product Configuration, Pricing & Delivery Across the Global Sale

Enabling Complex Multi-variant Product Configuration, Pricing & Delivery Across the Global Sale

  • BubblyBlonde
  • 15 Slides

Shenzhen Mindray Bio-Medical Electronics Co. Ltd.....

5 Figure 5: Structure of the chlorinated variant of eosin Y and its PBE/6-31G(d)

5 Figure 5: Structure of the chlorinated variant of eosin Y and its PBE/6-31G(d)

  • Lionheart
  • 1 Slides

On The . Colour. of Fountain Pen Inks. a. Kaitlin...

A Case Report of Variant Origin of Left Vertebral Artery from Aortic A

A Case Report of Variant Origin of Left Vertebral Artery from Aortic A

  • piper
  • 4 Slides

209 * Corresponding Author:Address: Department of ...

Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY

Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY

  • jovita
  • 5 Slides

inltrated by the tumor, it may be necessary t...

IN SUMMARY Genes contain the instructions for growth and development

IN SUMMARY Genes contain the instructions for growth and development

  • arya
  • 6 Slides

We all have a number of recessive gene variants wh...

Page 2 of 10Wangetal BMC Pediatrics 2022 22284

Page 2 of 10Wangetal BMC Pediatrics 2022 22284

  • danya
  • 10 Slides

consists of 34 exons and widely expresses in liver...

ORTHOPEDICS

ORTHOPEDICS

  • white
  • 2 Slides

Intoe, Bowlegs, Flat Feet and Other Things Not to...

International Journal of Health Sciences Research wwwijhsrorg

International Journal of Health Sciences Research wwwijhsrorg

  • adia
  • 7 Slides

105 Vol.6; Issue: 7; July 2016 International Journ...

httpswwwschurtercom PG02Circuit Protection

httpswwwschurtercom PG02Circuit Protection

  • mila-milly
  • 2 Slides

1 Clip, 5 x 20 / 6.3 x 32 mm, UR Clip 5 x 20 / 6.3...

Journal of Progress in Paediatric Urology JanApr 2014 Vol 17 Issue

Journal of Progress in Paediatric Urology JanApr 2014 Vol 17 Issue

  • ani
  • 3 Slides

41 Cloacal Exstrophy with Intravesical Phallus: An...

3923jciorgVolume 127Number 11November 2017

3923jciorgVolume 127Number 11November 2017

  • white
  • 14 Slides

Netrins are a family of extracellular proteins tha...

x0000x0000Revised NovemberA brain autopsy is recommended for all

x0000x0000Revised NovemberA brain autopsy is recommended for all

  • jocelyn
  • 3 Slides

Rapidly progressive dementia;at least two Myoclonu...

The Pro279Leu variant in the transcription factor MEF2A is associated

The Pro279Leu variant in the transcription factor MEF2A is associated

  • jasmine
  • 12 Slides

Key words: myocardial infarction, risk factors, ge...

CASE REPORT

CASE REPORT

  • emmy
  • 2 Slides

79 Program in Physical Therapy, Mayo Clinic, Roche...

Address for correspondence and reprint requests

Address for correspondence and reprint requests

  • elysha
  • 6 Slides

3 : Dr Vandana Mehta. Department of Anatomy, VMMC ...

EANSUEMS European examination in neurosurgeryPart I written Variant

EANSUEMS European examination in neurosurgeryPart I written Variant

  • josephine
  • 33 Slides

tagonists to the serratus anterior. Innervates te...

Variant CreutzfeldtJakob disease

Variant CreutzfeldtJakob disease

  • scarlett
  • 4 Slides

Reporting on 2014 data retrieved from TESSy* on 10...

Copyright © 2024 DocSlides. All Rights Reserved