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Parkinsonism Mutations published presentations and documents on DocSlides.

Genes are pieces of information in the cells that make up the body Ce

Genes are pieces of information in the cells that make up the body Ce

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Review of Cancer Genetics Normally, cells grow, di...

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

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1 Lung cancer Description Lung cancer is a disease...

Google Research Mountain View CA USA Wyss Institute for Biological

Google Research Mountain View CA USA Wyss Institute for Biological

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2,3,4,52,3, Pierce J. Ogden2,3,7, Patrick F. Riley...

type of skeletal dysplasia resulting in shortlimbeddwarfism with shor

type of skeletal dysplasia resulting in shortlimbeddwarfism with shor

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559V Cartilage-hair hypoplasia is a rare, autosoma...

Neurology India JulySeptember 2008 Vol 56 Issue 3

Neurology India JulySeptember 2008 Vol 56 Issue 3

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Department of Neuromuscular Research, National Ins...

Frontiers in Bioscience 5 d307311 March 1 2000

Frontiers in Bioscience 5 d307311 March 1 2000

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307 SPONGY DEGENERATION OF THE BRAIN, CANAVAN DISE...

due to its variable clinical pattern It is the most common and relat

due to its variable clinical pattern It is the most common and relat

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2020; 197 Figure 3Radiographs of this patient, sho...

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...

TYPE IV COLLAGEN Characterization of the COL4A5 gene mutations inAlpo

TYPE IV COLLAGEN Characterization of the COL4A5 gene mutations inAlpo

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OULUN YLIOPISTO, OULU 2000TYPE IV COLLAGEN Charact...

based Guideline Evaluation Diagnosis and Management of Congenital

based Guideline Evaluation Diagnosis and Management of Congenital

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Page 1 Evidence - Muscular Dystrophy Report of th...

Genetics of Colon Cancer in

Genetics of Colon Cancer in

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Teenagers Sharon E. Plon, MD, PhD, FACMG Baylor C...

FAP MAP and PPAP

FAP MAP and PPAP

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Marco Novelli FAP, MAP, NAP and PPAP Marco Novelli...

ORIGINAL RTICLES

ORIGINAL RTICLES

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

Page 2 of 12Fattizzoetal Orphanet J Rare Dis 2021 16415

Page 2 of 12Fattizzoetal Orphanet J Rare Dis 2021 16415

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1, 2]. Table shows the genetic basis of most comm...

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b14f0425n1624n23151918019r0

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3923jciorgVolume 127Number 11November 2017

3923jciorgVolume 127Number 11November 2017

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Netrins are a family of extracellular proteins tha...

HK J Paediatr new series 2010An Infant with Severe Congenital Neutr

HK J Paediatr new series 2010An Infant with Severe Congenital Neutr

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PPW TL PCY Department of Paediatrics and Adolesce...

TOUCH BRIEFINGS 2008Jacqueline A NoonanProfessor Emeritus of Pediatric

TOUCH BRIEFINGS 2008Jacqueline A NoonanProfessor Emeritus of Pediatric

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In 1883, Kobylinski reported a 20-year old male wi...

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

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

ACTA SCIENTIFIC Ophthalmology ISSN 25823191 Volume 3 Issue 1 J

ACTA SCIENTIFIC Ophthalmology ISSN 25823191 Volume 3 Issue 1 J

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Case Report AbstractAvellino is a corneal dystroph...

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics

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1 Progressive external ophthalmoplegia Description...

HAZARD COMMUNICATION CRISPRCas9 Technology

HAZARD COMMUNICATION CRISPRCas9 Technology

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DEFINITIONS Genome Editing : This is a type of ge...

Kidney International Vol 511997 pp 18931899Genomic organization

Kidney International Vol 511997 pp 18931899Genomic organization

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brought to you by CORE View metadata, citation an...

Center of Medical Genetics

Center of Medical Genetics

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

Clinical Reviews and Opinions Vol 31 pp 613 January 2011 Availa

Clinical Reviews and Opinions Vol 31 pp 613 January 2011 Availa

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Table 1. Mechanisms of beta-cell dysfunction seen ...

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NATURE REVIEWS

NATURE REVIEWS

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| NEPHROLOGY ADVANCE ONLINE PUBLICATION | 1 Depart...

Lack of MEF2A Mutations in Coronary Artery Disease

Lack of MEF2A Mutations in Coronary Artery Disease

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Li Weng°, Nihan Kavaslar^, Anna Ustaszewska°, He...

The Pro279Leu variant in the transcription factor MEF2A is associated

The Pro279Leu variant in the transcription factor MEF2A is associated

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

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...

Int J Biol Sci Vol httpwwwijbscom

Int J Biol Sci Vol httpwwwijbscom

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2821 International Journal of Biological Sciences2...

Int J Mol Sci 1805418076 doi103390ijms160818054 Internationa

Int J Mol Sci 1805418076 doi103390ijms160818054 Internationa

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Replication and maintenance of mtDNA entirely reli...

A Case of MODY Difficult to Diagnose

A Case of MODY Difficult to Diagnose

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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

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

mutagenesis techniques in plants

mutagenesis techniques in plants

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In vivo and in vitro random GMO Unit 10 June 202...

European Scientific Journal December 2013 SPECIAL edition vol4 I

European Scientific Journal December 2013 SPECIAL edition vol4 I

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628 BACTERIAL MUTATION; TYPES, MECHANISMS AND MUTA...

Selecting TILLING mutants

Selecting TILLING mutants

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Updated November 201 8 1 www.wheat - training.com...

othergroupshavealsofound

othergroupshavealsofound

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SMARCA4 mutationsinthis neoplasm[13-15]andallthese...

Is it possible to reconstruct the first few divisions

Is it possible to reconstruct the first few divisions

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after human tumor initiation? (and why this might...

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...

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