Accueil
Lynne A Wolfe
Lynne A Wolfe
Affiliations
Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.
Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA.
Publications (3)
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
Avec:
Allan Bayat
,
Alexej Knaus
,
Manuela Pendziwiat
,
Alexandra Afenjar
,
Tahsin Stefan Barakat
,
Friedrich Bosch
,
Bert Callewaert
,
Patrick Calvas
,
Berten Ceulemans
,
Nicolas Chassaing
,
Christel Depienne
,
Milda Endziniene
,
Carlos R Ferreira
,
Carolina Fischinger Moura de Souza
,
Cécile Freihuber
,
Shiva Ganesan
,
Svetlana Gataullina
,
Renzo Guerrini
,
Anne-Marie Guerrot
,
Lars Hansen
,
Aleksandra Jezela-Stanek
,
Caroline Karsenty
,
Anneke Kievit
,
Frank R Kooy
,
Christian M Korff
,
Johanne Kragh Hansen
,
Martin Larsen
,
Valérie Layet
,
Gaetan Lesca
,
Kim L McBride
,
Marije Meuwissen
,
Cyril Mignot
,
Martino Montomoli
,
Hannah Moore
,
Sophie Naudion
,
Caroline Nava
,
Marie-Christine Nougues
,
Elena Parrini
,
Matthew Pastore
,
Jurgen H Schelhaas
,
Steven Skinner
,
Krzysztoł Szczałuba
,
Ashley Thomas
,
Mads Thomassen
,
Lisbeth Tranebjaerg
,
Marjon van Slegtenhorst
,
Dennis Lal
,
Elena Gardella
,
Lilian Bomme Ousager
,
Tobias Brünger
,
Ingo Helbig
,
Peter Krawitz
,
Rikke S Møller
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
American journal of medical genetics. Part A
Avec:
Elizabeth A Burke
,
Kyle E Reichard
,
Brian P Brooks
,
John J DiGiovanna
,
Donald W Hadley
,
Tanya J Lehky
,
Andrea L Gropman
,
Cynthia J Tifft
,
William A Gahl
,
Camilo Toro
,
David Adams
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Molecular genetics and metabolism
Avec:
Mariska Davids
,
Minal Menezes
,
Yiran Guo
,
Scott D McLean
,
Hakon Hakonarson
,
Felicity Collins
,
Lisa Worgan
,
Charles J Billington
,
Irina Maric
,
Rebecca Okashah Littlejohn
,
Tito Onyekweli
,
Members Of The Udn
,
David R Adams
,
Cynthia J Tifft
,
William A Gahl
,
John Christodoulou
,
May Christine V Malicdan
Réseau de co-auteurs
Cynthia J Tifft
2 collaborations
William A Gahl
2 collaborations
Allan Bayat
1 collaboration
Alexej Knaus
1 collaboration
Manuela Pendziwiat
1 collaboration
Alexandra Afenjar
1 collaboration
Tahsin Stefan Barakat
1 collaboration
Friedrich Bosch
1 collaboration
Bert Callewaert
1 collaboration
Patrick Calvas
1 collaboration
Berten Ceulemans
1 collaboration
Nicolas Chassaing
1 collaboration
Christel Depienne
1 collaboration
Milda Endziniene
1 collaboration
Carlos R Ferreira
1 collaboration
Carolina Fischinger Moura de Souza
1 collaboration
Cécile Freihuber
1 collaboration
Shiva Ganesan
1 collaboration
Svetlana Gataullina
1 collaboration
Renzo Guerrini
1 collaboration
Anne-Marie Guerrot
1 collaboration
Lars Hansen
1 collaboration
Aleksandra Jezela-Stanek
1 collaboration
Caroline Karsenty
1 collaboration
Anneke Kievit
1 collaboration
Frank R Kooy
1 collaboration
Christian M Korff
1 collaboration
Johanne Kragh Hansen
1 collaboration
Martin Larsen
1 collaboration
Valérie Layet
1 collaboration
Gaetan Lesca
1 collaboration
Kim L McBride
1 collaboration
Marije Meuwissen
1 collaboration
Cyril Mignot
1 collaboration
Martino Montomoli
1 collaboration
Hannah Moore
1 collaboration
Sophie Naudion
1 collaboration
Caroline Nava
1 collaboration
Marie-Christine Nougues
1 collaboration
Elena Parrini
1 collaboration
Matthew Pastore
1 collaboration
Jurgen H Schelhaas
1 collaboration
Steven Skinner
1 collaboration
Krzysztoł Szczałuba
1 collaboration
Ashley Thomas
1 collaboration
Mads Thomassen
1 collaboration
Lisbeth Tranebjaerg
1 collaboration
Marjon van Slegtenhorst
1 collaboration
Dennis Lal
1 collaboration
Elena Gardella
1 collaboration
Lilian Bomme Ousager
1 collaboration
Tobias Brünger
1 collaboration
Ingo Helbig
1 collaboration
Peter Krawitz
1 collaboration
Rikke S Møller
1 collaboration
Elizabeth A Burke
1 collaboration
Kyle E Reichard
1 collaboration
Brian P Brooks
1 collaboration
John J DiGiovanna
1 collaboration
Donald W Hadley
1 collaboration
Tanya J Lehky
1 collaboration
Andrea L Gropman
1 collaboration
Camilo Toro
1 collaboration
David Adams
1 collaboration
Mariska Davids
1 collaboration
Minal Menezes
1 collaboration
Yiran Guo
1 collaboration
Scott D McLean
1 collaboration
Hakon Hakonarson
1 collaboration
Felicity Collins
1 collaboration
Lisa Worgan
1 collaboration
Charles J Billington
1 collaboration
Irina Maric
1 collaboration
Rebecca Okashah Littlejohn
1 collaboration
Tito Onyekweli
1 collaboration
None Members Of The Udn
1 collaboration
David R Adams
1 collaboration
John Christodoulou
1 collaboration
May Christine V Malicdan
1 collaboration