LE WE PMID CA
Deafness (Inherited)7136Taubheit (Hereditaer)

ADTB3A

Amyotrophic lateral sclerosis slow progressing ALS8

Amyotrophic lateral sclerosis

ARC syndrome

ARL6

Arts syndrome

Bardet Biedl syndrome

beta Actin

beta3 spectrin

CEDNIK syndrome

Cell secretion (Intracellular transport)

Charcot Marie Tooth disease type 2a

Charcot Marie Tooth disease type 2b

Charcot Marie Tooth disease

Chediak Higashi syndrome

Choroideremia

COG7

Congenital disorder of glycosylation type IIe

Connexin26

Connexin43

Cranio lenticulo sutural dysplasia

Deafness (Inherited)

Developmental malformations deafness dystonia OMIM_607371

DTNBP1

Duane retraction syndrome

Dysferlin

Elajalde syndrome Griscelli syndrome II

Factor V (Coagulation)

Factor VIII (Coagulation)

Familial hemophagoctic lymphohistiocytosis

Griscelli s syndrome III

Griscelli s syndrome2

Hereditary spastic paraplegia SPG10

Hereditary spastic paraplegia SPG4

Hermansky Pudlak syndrome

HPS1

HPS3

HPS4

HPS5

HPS6

KIF1B

KIF5A

Klippel Feil syndrome

Limb girdle muscular dystrophy type 2B

LMAN1 ERGIC53

Lowe s syndrome

LYST CHS1

Martsolf syndrome

MCFD2

Miyoshi s myopathy

MLPH

Myosin Ia Myo1a

Myosin Va Myo5a

Myosin VI

Myosin VIIa

Myosin XVa Myo15a

OCRL1

Oculodentodigital dysplasia

OMIM_300104

Phosphoribosylpyrophosphate synthetase

RAB27A

RAB3GAP

RAB7

RABGDIA

REP1

SEC23A

SNAP29

SPG20 Spartin

SPG4 Spastin

Spinal muscular atrophy late onset

Spinocerebellar ataxia5

Syntaxin11

Troyer syndrome SPG20

UNC13D Munc13 4 HPLH3

Usher syndrome type Ib

VAPB

VPS33B

Warburg Micro syndrome

Wildervanck's syndrome

2010  
1
PRPS1 mutations: four distinct syndromes and potential treatment.
[20380929] Am J Hum Genet 86(4): 506-18 (2010)
2008  
2
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
[18089569] J Biol Chem 283(6): 2997-3001 (2008)
2011  
3
Clinical practice: The approach to the deaf or hard-of-hearing paediatric patient.
[21766166] Eur J Pediatr 170(11): 1359-63 (2011)
2010  
4
Wildervanck syndrome associated with cleft palate and short stature.
[20534924] Indian J Ophthalmol 58(4): 323-5 (2010)
2006  
5
2007  
6
Cargos and genes: insights into vesicular transport from inherited human disease.
[17526798] J Med Genet 44(9): 545-55 (2007)
2009  
7
Function and expression pattern of nonsyndromic deafness genes.
[19601806] Curr Mol Med 9(5): 546-64 (2009)
2010  
8
Potential role for lipopolysaccharide in congenital sensorineural hearing loss.
[20093374] J Med Microbiol 59(Pt 4): 377-83 (2010)

Downloaded from http://www.kidney.de - The Database of Free Medical Reviews - The Metatextbook of Medicine - Ossip Groth

All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.



  • Taubheit (Hereditaer)

  • The BDOM Bibliographic Dictionary of Medicine is a curated collection of free medical articles tagged to concepts.
    Contents until 2011 are reviews from PubMed, contents flagged 'PMC' are regular articles from PubMed Central.
    Search BDOM
    Nephrology Collection
    Radiology Locator

    PubMedCentral monthly collection of free medical articles by major subject

    The framed wikipedia articles are from en.wikipedia.org and they are the actual versions; the first is from Nephropedia