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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American journal of human genetics, 2016-06, Vol.98 (6), p.1235-1242 [Peer Reviewed Journal]

2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 2, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.03.030 ;PMID: 27259054

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2
Cilia: Organelles at the Heart of Heart Disease
Cilia: Organelles at the Heart of Heart Disease
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Cilia: Organelles at the Heart of Heart Disease

Current biology, 2015-06, Vol.25 (13), p.R559-R562 [Peer Reviewed Journal]

2015 Elsevier Ltd ;Copyright © 2015 Elsevier Ltd. All rights reserved. ;ISSN: 0960-9822 ;EISSN: 1879-0445 ;DOI: 10.1016/j.cub.2015.05.005 ;PMID: 26126281

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3
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
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Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

American journal of human genetics, 1995-06, Vol.56 (6), p.1391-1403 [Peer Reviewed Journal]

1995 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7762562 ;CODEN: AJHGAG

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4
Down syndrome : molecular mapping of the congenital heart disease and duodenal stenosis
Down syndrome : molecular mapping of the congenital heart disease and duodenal stenosis
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Down syndrome : molecular mapping of the congenital heart disease and duodenal stenosis

American journal of human genetics, 1992-02, Vol.50 (2), p.294-302 [Peer Reviewed Journal]

1992 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 1531166 ;CODEN: AJHGAG

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5
Familial occurrence of trisomy 22
Familial occurrence of trisomy 22
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Familial occurrence of trisomy 22

American journal of human genetics, 1968-03, Vol.20 (2), p.107-118 [Peer Reviewed Journal]

ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 5643178

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