Esther Kott und Mutations - Info zur Person

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MBB JC: Esther Kott ‹ UConn Calendar

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MBB JC: Esther Kott. Monday, October 20, :00pm – 1:00pm. UConn Health EG052. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption ...

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia...

www.cell.com

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects. Esther Kott.

The American Journal of Human Genetics | Vol 93, Issue 3, Pages...

www.sciencedirect.com

Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, ... Serge Amselem. Pages : Download PDF. Article preview. select article Mutations in ...

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper...

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Esther Kott,,,; Philippe Duquesnoy,,,; Bruno Copin,,; Marie Legendre,,; Florence Dastot-Le Moal,,; Guy Montantin,,; Ludovic Jeanson,,; Aline ...

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex...

www.sciencedirect.com

... Guy Montantin,; Jacques Cadranel,,; Harriet Corvol,,; André Coste,,; Julie Désir ,; Anissa Souayah,; Esther Kott,; Nathalie Collot,; Sylvie Tissier ...

Esther Kott

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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects · Esther Kott, Marie Legendre, Bruno ...

Delineation of CCDC39/CCDC40 mutation spectrum and associated...

pubmed.ncbi.nlm.nih.gov

CCDC39 and CCDC40 mutations represent the major cause of PCD with IDA defects and axonemal disorganisation. Patients carrying CCDC39 or CCDC40 mutations are...

The American Journal of Genetics

biblioteca.udla.edu.ec

Esther Kott, Marie Legendre. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies. Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández. Mutations ...

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia...

www.infona.pl

Esther Kott. Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique – Hôpitaux de Paris, Paris , France; Institut ...

Loss-of-function mutations in LRRC6, a gene essential for proper...

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Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot- Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean-François ...

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia...

read.qxmd.com

Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel ...

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