#retinitis-pigmentosa

icon subthematics
The Retinal Atlas E-Book
Category

Ebooks

The Retinal Atlas E-Book

Lawrence A. Yannuzzi

The Retinal Atlas E-Book Alternate Text
Category

Ebooks

Medecine

The Retinal Atlas E-Book

Lawrence A. Yannuzzi

Book

1428 pages

Flag

English

Emery s Elements of Medical Genetics E-Book
Category

Ebooks

Emery's Elements of Medical Genetics E-Book

Peter D Turnpenny, Sian Ellard

Emery s Elements of Medical Genetics E-Book Alternate Text
Category

Ebooks

Medecine

Emery's Elements of Medical Genetics E-Book

Peter D Turnpenny, Sian Ellard

Book

860 pages

Flag

English

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Category

Documents

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Eisenberger Tobias, Mansour Ahmad, Slim Rima, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 Alternate Text
Category

Documents

Savoirs

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Eisenberger Tobias, Mansour Ahmad, Slim Rima, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno

Book

6 pages

Flag

English

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Category

Documents

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog, Bindoff

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing Alternate Text
Category

Documents

Savoirs

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog, Bindoff

Book

10 pages

Flag

English

Analysis of PDE6Dand PDE6Ggenes for generalised progressive retinal atrophy (gPRA) mutations in dogs
Category

Documents

Analysis of PDE6Dand PDE6Ggenes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Dekomien Gabriele, Epplen

Analysis of PDE6Dand PDE6Ggenes for generalised progressive retinal atrophy (gPRA) mutations in dogs Alternate Text
Category

Documents

Savoirs

Analysis of PDE6Dand PDE6Ggenes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Dekomien Gabriele, Epplen

Book

12 pages

Flag

English

  • 1
Alternate Text