Bader Alhaddad

Bader Alhaddad

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Bader Alhaddad

Bader Alhaddad

Publications by authors named "Bader Alhaddad"

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35Publications

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Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Severe ichthyosis in MPDU1-CDG.

J Inherit Metab Dis 2018 11 2;41(6):1293-1294. Epub 2018 May 2.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s10545-018-0189-9DOI Listing
November 2018

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

Am J Med Genet A 2018 07 7;176(7):1602-1609. Epub 2018 May 7.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38723DOI Listing
July 2018

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics 2018 02 15;49(1):59-62. Epub 2017 Sep 15.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1606370DOI Listing
February 2018

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 2018

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

J Genet 2017 Dec;96(6):1005-1014

Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.

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http://dx.doi.org/10.1007/s12041-017-0868-6DOI Listing
December 2017

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Pediatr Res 2017 Nov 26;82(5):753-758. Epub 2017 Jul 26.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://www.nature.com/doifinder/10.1038/pr.2017.149
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http://dx.doi.org/10.1038/pr.2017.149DOI Listing
November 2017

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Eur J Hum Genet 2017 09 14;25(9):1092-1095. Epub 2017 Jun 14.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2017.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558179PMC
September 2017

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Eur J Hum Genet 2017 08 10;25(8):960-965. Epub 2017 May 10.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/ejhg.2017.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567151PMC
August 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Mov Disord 2017 05 2;32(5):797-799. Epub 2017 Feb 2.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1002/mds.26922DOI Listing
May 2017

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Metab Brain Dis 2017 02 8;32(1):267-270. Epub 2016 Aug 8.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9890-2DOI Listing
February 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

Metab Brain Dis 2016 06 16;31(3):717-21. Epub 2016 Jan 16.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9793-2DOI Listing
June 2016