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P53 Mutations published presentations and documents on DocSlides.

CLASSIFICATION OF AML &

CLASSIFICATION OF AML &

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PROGNOSTIC FACTORS. Although the first published r...

Using BLAST to Analyze Proteins

Using BLAST to Analyze Proteins

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Part 2: Comparing Fluorescent Proteins. 2013 Work...

A Study of Haematology in newborns with Down syndrome

A Study of Haematology in newborns with Down syndrome

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Alice Norton, Georgina Hall, Paresh Vyas. Departme...

Hereditary syndromes, genetic testing and

Hereditary syndromes, genetic testing and

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gynaecological. cancers. Prof.. Nicoletta . Col...

Chapter 13 The Structure of RNA

Chapter 13 The Structure of RNA

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RNA is made of a long chain of nucleotides.. Diffe...

Acute myeloid leukemia leads the way in molecular cancer genetics:

Acute myeloid leukemia leads the way in molecular cancer genetics:

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precision . medicine at reach?. Lars . Bullinger. ...

Cerebral Palsy – Multiple pathways, outcomes and genetic variants

Cerebral Palsy – Multiple pathways, outcomes and genetic variants

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American Journal of Obstetrics & Gynecology 20...

Alleles of the

Alleles of the

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APC Gene: An Attenuated Form of Familial Polyposi...

J Pediatr Endocr Met 20112478599601 2011 by Walter de Gruyter

J Pediatr Endocr Met 20112478599601 2011 by Walter de Gruyter

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Pediatrics, Aristotle University School of Medicin...

Poster presented

Poster presented

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57EStE 313-P3 Marina Krstevska-KonstantinovaDOI: ...

the ATM ataxiatelangiectasia mutated protein is absent or reduced

the ATM ataxiatelangiectasia mutated protein is absent or reduced

  • morton
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Currently there is no cure for ataxiatelangiectasi...

chromosome 11q23 and was cloned in 1995 9 Molecular66 exons 62 cod

chromosome 11q23 and was cloned in 1995 9 Molecular66 exons 62 cod

  • bella
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402 AT variant syndromes have mutations in genes o...

216 PARIPEX INDIAN JOURNAL OF RESEARCH

216 PARIPEX INDIAN JOURNAL OF RESEARCH

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Holt Oram Syndrome - Case Report Dr.Santosh kumar ...

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JulySeptember 2018Volume 73

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201 Abstract:Cornelia de-Lange syndrome is charact...

Genetic Testing for BRCA1 and BRCA2 Inform

Genetic Testing for BRCA1 and BRCA2 Inform

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How common are BRCA1 and BRCA2 mutations in the ge...

DISORDERSETTING

DISORDERSETTING

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Question 1: What is the specific clinical disorder...

IntroductionBreast cancer is the most common cancer among women worldw

IntroductionBreast cancer is the most common cancer among women worldw

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, Seda Klç , Demet Akdeniz , Özge ...

PJ Roughley et al

PJ Roughley et al

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European Cells and Materials Vol. 5. 2003 (pages 4...

Curiosity did not kill the cat conventionality did 150 Lisa Laird

Curiosity did not kill the cat conventionality did 150 Lisa Laird

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BRUNENDERS: A PARTIALLY ATTENUATED HISTORIC POLIOV...

The C elegans Cell Death Gene ted3 Encodes a Protein Similar to Mamm

The C elegans Cell Death Gene ted3 Encodes a Protein Similar to Mamm

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Junying Yuan,tS Shai Shaham,t Stephane Ledoux,S§ ...

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...

b14f0425n1624n23151918019r0

b14f0425n1624n23151918019r0

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\r\r\f\f�\t\b...

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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  • 25 Slides

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...

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