Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda ; Vol. 4, 2005
EXCLI journal ; Vol. 4, 2005

Classification: Medizin, Gesundheit

Creator: Jang, Se Bok
Jeong, Mi Suk
Lee, Kyoung Mi

Handle: 2003/25651

URN: urn:nbn:de:101:1-201606032233

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:53 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Jang, Se Bok
Jeong, Mi Suk
Lee, Kyoung Mi

Other Objects (12)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda

Object Details

References and Relationships

Classification and Topics

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Early dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Easily misdiagnosed X-linked adrenoleukodystrophy

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

X-linked disorders with cerebellar dysgenesis

X-linked SCID with a rare mutation

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Related objects

Reset password