Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Hormone research in paediatrics(77), H. 2, S.100-107

Event: Veröffentlichung

(where): Kiel

(who): Universitätsbibliothek Kiel

(when): 2012

Creator: Barbaro, Michela
Bens, Susanne
Haake, Andrea
Peter, Michael
Brämswig, Jürgen
Holterhus, Paul-Martin
Lopez-Siguero, Juan Pedro
Menken, Udo
Mix, Monika
Sippell, Wolfgang
Wedell, Anna
Riepe, Felix Günther

DOI: 10.1159/000336344

URN: urn:nbn:de:gbv:8-mods-2020-00559-9

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:47 PM CET

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Associated

Barbaro, Michela
Bens, Susanne
Haake, Andrea
Peter, Michael
Brämswig, Jürgen
Holterhus, Paul-Martin
Lopez-Siguero, Juan Pedro
Menken, Udo
Mix, Monika
Sippell, Wolfgang
Wedell, Anna
Riepe, Felix Günther
Universitätsbibliothek Kiel

Time of origin

2012

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Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Adrenarche and Puberty in Children with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

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Other Objects (12)

Congenital adrenal hyperplasia

Novel therapeutic approaches for Congenital Adrenal Hyperplasia

Nachweis von Veränderungen der mitochondrialen Desoxyribonukleinsäure mittels "multiplex ligation-dependent probe amplification"

Effects of Congenital Adrenal Hyperplasia (CAH) and Biological Sex on Brain Size

Growth in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Optimisation of congenital adrenal hyperplasia therapy in paediatric and foetal populations by leveraging pharmacometrics

Expressionsanalyse der Mismatch Repair Gene MLH und MSH2 mittels Multiplex Ligation-Dependent Probe Amplification (MLPA)

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Adrenarche and Puberty in Children with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency

Adrenal progeny and factors of adrenal differentiation

Adrenal progeny and factors of adrenal differentiation

Congenital adrenal hyperplasia

Novel therapeutic approaches for Congenital Adrenal Hyperplasia

Nachweis von Veränderungen der mitochondrialen Desoxyribonukleinsäure mittels "multiplex ligation-dependent probe amplification"

Effects of Congenital Adrenal Hyperplasia (CAH) and Biological Sex on Brain Size

Growth in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Optimisation of congenital adrenal hyperplasia therapy in paediatric and foetal populations by leveraging pharmacometrics

Expressionsanalyse der Mismatch Repair Gene MLH und MSH2 mittels Multiplex Ligation-Dependent Probe Amplification (MLPA)

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Adrenarche and Puberty in Children with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency

Adrenal progeny and factors of adrenal differentiation

Adrenal progeny and factors of adrenal differentiation

Congenital adrenal hyperplasia

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Nachweis von Veränderungen der mitochondrialen Desoxyribonukleinsäure mittels "multiplex ligation-dependent probe amplification"

Effects of Congenital Adrenal Hyperplasia (CAH) and Biological Sex on Brain Size

Growth in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Optimisation of congenital adrenal hyperplasia therapy in paediatric and foetal populations by leveraging pharmacometrics

Expressionsanalyse der Mismatch Repair Gene MLH und MSH2 mittels Multiplex Ligation-Dependent Probe Amplification (MLPA)

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Adrenarche and Puberty in Children with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency

Adrenal progeny and factors of adrenal differentiation

Adrenal progeny and factors of adrenal differentiation

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