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Results 1 - 20 of 253  for All Library Resources

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1
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

American journal of human genetics, 2015-12, Vol.97 (6), p.894-903 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 3, 2015 ;2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.11.003 ;PMID: 26637979

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2
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Neuron (Cambridge, Mass.), 2018-07, Vol.99 (2), p.302-314.e4 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.06.019 ;PMID: 29983323

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3
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

American journal of human genetics, 2014-09, Vol.95 (3), p.275-284 [Peer Reviewed Journal]

2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 4, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.07.011 ;PMID: 25132448

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4
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

American journal of human genetics, 2014-07, Vol.95 (1), p.96-107 [Peer Reviewed Journal]

2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 3, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.05.007 ;PMID: 24931394

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5
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.013 ;PMID: 23541340

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6
Mutations in WNT1 Cause Different Forms of Bone Fragility
Mutations in WNT1 Cause Different Forms of Bone Fragility
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Mutations in WNT1 Cause Different Forms of Bone Fragility

American journal of human genetics, 2013-04, Vol.92 (4), p.565-574 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.010 ;PMID: 23499309

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7
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

American journal of human genetics, 2016-08, Vol.99 (2), p.437-442 [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 Aug 4, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.012 ;PMID: 27476656

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8
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American journal of human genetics, 2014-04, Vol.94 (4), p.574-585 [Peer Reviewed Journal]

2014 The Authors ;Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 3, 2014 ;2014 The Authors 2014 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.03.007 ;PMID: 24702954

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9
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

American journal of human genetics, 2015-03, Vol.96 (3), p.498-506 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 5, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.01.017 ;PMID: 25728775

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10
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
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Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Neuron (Cambridge, Mass.), 2019-02, Vol.101 (3), p.429-443.e4 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.11.041 ;PMID: 30578106

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11
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
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Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

American journal of human genetics, 2015-06, Vol.96 (6), p.955-961 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 4, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.04.014 ;PMID: 26004201

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12
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

American journal of human genetics, 2016-01, Vol.98 (1), p.75-89 [Peer Reviewed Journal]

2016 The Authors ;Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 7, 2016 ;2016 The Authors 2016 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.11.018 ;PMID: 26749309

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13
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2012-07, Vol.91 (1), p.15-26 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 13, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.05.002 ;PMID: 22683087 ;CODEN: AJHGAG

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14
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

American journal of human genetics, 2015-10, Vol.97 (4), p.546-554 [Peer Reviewed Journal]

2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Oct 1, 2015 ;2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.08.012 ;PMID: 26387594

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15
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
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Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

American journal of human genetics, 2017-01, Vol.100 (1), p.169-178 [Peer Reviewed Journal]

2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 5, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.11.017 ;PMID: 28017374

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16
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Apr 4, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.02.012 ;PMID: 23522784

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17
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

American journal of human genetics, 2017-03, Vol.100 (3), p.488-505 [Peer Reviewed Journal]

2017 The Authors ;Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;2017 The Authors 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.033 ;PMID: 28257691

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18
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

American journal of human genetics, 2006-09, Vol.79 (3), p.556-561 [Peer Reviewed Journal]

2006 The American Society of Human Genetics ;2006 INIST-CNRS ;Copyright University of Chicago, acting through its Press Sep 2006 ;2006 by The American Society of Human Genetics. All rights reserved. 2006 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/507318 ;PMID: 16909394 ;CODEN: AJHGAG

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19
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.241-256.e9 [Peer Reviewed Journal]

2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;2020. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2020.10.035 ;PMID: 33220177

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20
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

American journal of human genetics, 2017-03, Vol.100 (3), p.523-536 [Peer Reviewed Journal]

2017 The Author(s) ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.024 ;PMID: 28190456

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