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Hypersaline Mutation published presentations and documents on DocSlides.

httppfmjournalorg

httppfmjournalorg

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Charcot-Marie-Tooth disease subtypes CLASSIFICATI...

Persistent failures in gene repair

Persistent failures in gene repair

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71 Gerrit van der Steege*, Petra H.L. Schuilenga-H...

Sexchromosome systems have evolved independently many times and have

Sexchromosome systems have evolved independently many times and have

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REVIEWS NATURE REVIEWS GENETICS VOLUME 7 AUGU...

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ANRV361GE4214ARI1October20082033

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THECODONBIASThegeneticcodedetermineswhichofthe61tr...

ORIGINAL RTICLES

ORIGINAL RTICLES

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IMAJ • VOL • septe Background:atients with mu...

100 of all possible base changes to the first base cause an altered i

100 of all possible base changes to the first base cause an altered i

  • fauna
  • 25 Slides

associated with a gain of function. iii) a dynami...

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  • helene
  • 5 Slides

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Center of Medical Genetics

Center of Medical Genetics

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Sir Ganga Ram Hospital Rajinder Nagar, New Delhi 1...

DANISH MEDICAL JOURNAL

DANISH MEDICAL JOURNAL

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Dan Med J c h S TRAC T INTRODUCTION: i m pl ica...

Sanford wrote 145I knew I would be

Sanford wrote 145I knew I would be

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at odds with the most “sacred cow” of m...

1 Inherited metabolic diseases in the Southern Chinese population Dis

1 Inherited metabolic diseases in the Southern Chinese population Dis

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Department of Chemical Pathology, Faculty of Medic...

A Case of MODY Difficult to Diagnose

A Case of MODY Difficult to Diagnose

  • clara
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A 17 - year - old female attended the diabetes cli...

Congenital muscular dystrophies CMD are a heterogeneous group of dis

Congenital muscular dystrophies CMD are a heterogeneous group of dis

  • elise
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WWS, MEB, FCMD and MDC1C are caused by mutations a...

Helping Farmers Grow

Helping Farmers Grow

  • hadley
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CropLife International aisbl, 326 avenue Louise, b...

LABORATORY NUMBER

LABORATORY NUMBER

  • jasmine
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SOMATIC MUTATION TESTING REQUEST FORM (WA) INSTRUC...

Known Familial Mutations and Genetic Testing among

Known Familial Mutations and Genetic Testing among

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Patients in the Hereditary Cancer Network Database...

UTSW Cancer Genetics

UTSW Cancer Genetics

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CancerGenetics@utsouthwestern.edu | 214 - 645 - 25...

An Introduction to MUTYH Associated Polyposis MAP

An Introduction to MUTYH Associated Polyposis MAP

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An Introduction to MUTYH Associated Polyposis(MAP)...

Alexander Disease

Alexander Disease

  • roxanne
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Title: GeneReview Table 2 Authors : Srivastava S...

L JOURNA CANADIE DE SCIENCE NEUROLOGIQUEBiochemistr an Genetic o TayS

L JOURNA CANADIE DE SCIENCE NEUROLOGIQUEBiochemistr an Genetic o TayS

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KWWSVGRLRUJ6...

Case Report

Case Report

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183 Dravet syndrome in a 13-year-old child B. Veng...

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

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1 Terminal osseous dysplasia Description Terminal ...

Dystrophic Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa

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Title: GeneReview – EBS and JEB Nomenclature Au...

Introduction Epidermodysplasia verruciformis EV OMIM

Introduction Epidermodysplasia verruciformis EV OMIM

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, mainly #-HPV, which are assumed to be carcinogen...

HHereditary Cancer in Clin

HHereditary Cancer in Clin

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Hereditary Cancer in Clinical Practice 2005; 3(3) ...

Colorectal cancer in young

Colorectal cancer in young

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adults: The focus on hereditary cancer syndromes ...

x0000x0000 Puschmann Review monogenic PDMonogen

x0000x0000 Puschmann Review monogenic PDMonogen

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�� Puschmann: Review...

International Journal of Medical Research Health Sciences 2019 81

International Journal of Medical Research Health Sciences 2019 81

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This kind of study was conducted �rst t...

Page 2 of 13Gharesouranetal Orphanet J Rare Dis 2021 16

Page 2 of 13Gharesouranetal Orphanet J Rare Dis 2021 16

  • joanne
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the inherited forms of the disease have an inciden...

ONLINEMUTATIONREPORTSpasticparaparesiscerebellarataxiaandintentiontr

ONLINEMUTATIONREPORTSpasticparaparesiscerebellarataxiaandintentiontr

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Guidance on a strategy for genotoxicity testing of chemicals

Guidance on a strategy for genotoxicity testing of chemicals

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��1 &#x/MCI; 0 ;&#x/MCI; 0 ...

Ashleigh Porter Department of Biology Lake Forest College Abstract

Ashleigh Porter Department of Biology Lake Forest College Abstract

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Martin, 1998). Specifically, it was found that pat...

gene mutation

gene mutation

  • madeline
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155V 52 15, 2015EPORTS 156V 52 15, 2015EPORTSTSMor...

SpringerVerlag 1992

SpringerVerlag 1992

  • pamela
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(1992) 101:381 387 Focus The fragile X syndrome:...

Address for Correspondence Yasemin IIK BALCI MD October 21

Address for Correspondence Yasemin IIK BALCI MD October 21

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355 Hemophagocytic lymphohistiocytosis (HLH) repre...

South Clin Ist Euras

South Clin Ist Euras

  • walsh
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inltration seen in allergic angioedema, there...

Hereditary hyperferritinemiacataract syndrome HHCS is a rare autoso

Hereditary hyperferritinemiacataract syndrome HHCS is a rare autoso

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147 Rank_FINAL.indd 147 17/11/2015 23:45 148 i...

IJSR INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH

IJSR INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH

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Medical Science Youssef Awni Senior Physician Spec...

e110 VOL 130 NO 3 SEPTEMBER 2017 OBSTETRICS GYNECOLOGY

e110 VOL 130 NO 3 SEPTEMBER 2017 OBSTETRICS GYNECOLOGY

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tiple family members with breast cancer, ovarian c...

DNA TESTING STRATEGIES AIMED AT PREVENTING HEREDITARY NONPOLYPOSI

DNA TESTING STRATEGIES AIMED AT PREVENTING HEREDITARY NONPOLYPOSI

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DISORDER/SETTING 1. What is the specific clinica...

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