11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

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Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.

P2860

Q49747114-F89C274D-E518-4336-86CC-C8D00F8C1C33

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11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

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http://www.wikidata.org/entity/Q54161641

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2015年学术文章

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11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

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11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

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Item

label

11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

@en

11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

@nl

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11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

@en

11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

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P1476

11p15 duplication and 13q34 de ...... ome and factor VII deficiency.

@en

P2093

Agata Cieślikowska

http://www.w3.org/2001/XMLSchema#string

Agnieszka Tomaszewska

http://www.w3.org/2001/XMLSchema#string

Angelika Wawrzkiewicz-Witkowska

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Anna Tańska

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Monika Kugaudo

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P2860

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review.

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.

Sox1 acts through multiple independent pathways to promote neurogenesis.

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

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486-491

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scholarly article

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10.1111/PED.12611

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

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Elżbieta Ciara

Małgorzata Krajewska-Walasek

Marzena Kucharczyk

Dorota Jurkiewicz

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2015-05-27T00:00:00Z

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P698

26012727

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11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

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P2860

P2860

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698