Alban Ziegler

Alban Ziegler

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Alban Ziegler

Alban Ziegler

Publications by authors named "Alban Ziegler"

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clin Genet 2019 Oct 17;96(4):354-358. Epub 2019 Jul 17.

Département de Biochimie et Génétique du CHU d'Angers, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1111/cge.13603DOI Listing
October 2019

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

J Matern Fetal Neonatal Med 2019 Sep 12:1-4. Epub 2019 Sep 12.

Department of Biochemistry and Genetics, Angers University Hospital , Angers , France.

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http://dx.doi.org/10.1080/14767058.2019.1657084DOI Listing
September 2019

A snapshot of some pLI score pitfalls.

Hum Mutat 2019 Jul 29;40(7):839-841. Epub 2019 Apr 29.

Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.

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http://dx.doi.org/10.1002/humu.23763DOI Listing
July 2019

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Otol Neurotol 2017 09;38(8):1081-1084

*APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Service de Génétique Médicale †APHP, Hôpital Necker Enfants Malades, Service d'otorhinolaryngologie ‡APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Laboratoire de Génétique moléculaire §APHP, Hôpital Robert Debré ||APHP, Hôpital Necker-Enfants malades, Département de Génétique, Paris, France.

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http://dx.doi.org/10.1097/MAO.0000000000001509DOI Listing
September 2017

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

Clin Dysmorphol 2014 Jul;23(3):109-10

aDepartment of Biochemistry and Genetics, Angers University Hospital bDepartment of Medical Genetics, Montpellier University Hospital cLaboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, Hôpital Purpan, Toulouse, France.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000041DOI Listing
July 2014