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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8794

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) ; volume:11 ; number:1 ; day:25 ; month:10 ; year:2018 ; pages:1-10 ; date:12.2018
BMC medical genomics ; 11, Heft 1 (25.10.2018), 1-10, 12.2018

Creator: Leung, Gordon K C.
Mak, Christopher C Y.
Fung, Jasmine L F.
Wong, Wilfred H S.
Tsang, Mandy H Y.
Yu, Mullin H C.
Pei, Steven L C.
Yeung, K S.
Mok, Gary T K.
Lee, C P.
Hui, Amelia P W.
Tang, Mary H Y.
Chan, Kelvin Y K.
Liu, Anthony P Y.
Yang, Wanling
Sham, P C.
Kan, Anita S Y.
Chung, Brian H Y.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-018-0409-z

URN: urn:nbn:de:101:1-2018121422512534324853

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

Last update: 15.04.2025, 3:50 PM CEST

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Associated

Leung, Gordon K C.
Mak, Christopher C Y.
Fung, Jasmine L F.
Wong, Wilfred H S.
Tsang, Mandy H Y.
Yu, Mullin H C.
Pei, Steven L C.
Yeung, K S.
Mok, Gary T K.
Lee, C P.
Hui, Amelia P W.
Tang, Mary H Y.
Chan, Kelvin Y K.
Liu, Anthony P Y.
Yang, Wanling
Sham, P C.
Kan, Anita S Y.
Chung, Brian H Y.
SpringerLink (Online service)

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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

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

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

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

Comprehensive comparison of three commercial human whole-exome capture platforms

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

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

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A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

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

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

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

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Other Objects (12)

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis

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

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

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

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

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis

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

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

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

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

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis

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

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Whole-exome sequencing of a pedigree segregating asthma

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

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

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