Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context ; day:27 ; month:10 ; year:2023 ; pages:1-11
Zeitschrift für Kinderheilkunde ; (27.10.2023), 1-11

Creator: Slobbe, Michelle van
Haeringen, Arie van
Vissers, Lisenka E. L. M.
Bijlsma, Emilia K.
Rutten, Julie W.
Suerink, Manon
Nibbeling, Esther A. R.
Ruivenkamp, Claudia A. L.
Koene, Saskia

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00431-023-05279-4

URN: urn:nbn:de:101:1-2024011513482720518537

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:23 AM CEST

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Associated

Slobbe, Michelle van
Haeringen, Arie van
Vissers, Lisenka E. L. M.
Bijlsma, Emilia K.
Rutten, Julie W.
Suerink, Manon
Nibbeling, Esther A. R.
Ruivenkamp, Claudia A. L.
Koene, Saskia
SpringerLink (Online service)

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Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

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Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

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Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

Hochschulschrift

Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

Exome Pool-Seq in neurodevelopmental disorders

Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Human whole-exome genotype data for Alzheimer’s disease

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

Hochschulschrift

Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

Exome Pool-Seq in neurodevelopmental disorders

Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Human whole-exome genotype data for Alzheimer’s disease

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

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Other Objects (12)

Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

Exome Pool-Seq in neurodevelopmental disorders

Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Human whole-exome genotype data for Alzheimer’s disease

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

Exome Pool-Seq in neurodevelopmental disorders

Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Human whole-exome genotype data for Alzheimer’s disease

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

Systematische Identifizierung von Krankheitsgenen für angeborene zerebrale Fehlbildungen mittels "Whole-exome sequencing (WES)"

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

Exome Pool-Seq in neurodevelopmental disorders

Clinical Exome Reanalysis: Current Practice and Beyond

Comprehensive comparison of three commercial human whole-exome capture platforms

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Human whole-exome genotype data for Alzheimer’s disease

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

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