Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... eys and Hypoplastic Clavicles.

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Identification of a Novel Hete ...... neys and Hypoplastic Clavicles

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Bader Alhaddad

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Carmen Montoya

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Corinna Siegel

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Julia Hoefele

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Korbinian Maria Riedhammer

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Reka Kovacs-Nagy

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Thomas Meitinger

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P2860

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Requirement for Pbx1 in skeletal patterning and programming chondrocyte proliferation and differentiation

Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Recent genetic studies of mouse kidney development.

Opportunities and challenges of whole-genome and -exome sequencing.

Pbx Regulates Patterning of the Cerebral Cortex in Progenitors and Postmitotic Neurons

What can exome sequencing do for you?

Novel genetic aspects of congenital anomalies of kidney and urinary tract.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

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scholarly article

case report

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10.3389/FPED.2017.00251

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Matias Wagner

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2017-11-24T00:00:00Z

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

about

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

description

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type

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P1433

P1476

P2093

P2860

P304

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P478

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P2860

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