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Association between speech perception in noise and electrophysiological measures: an exploratory study of possible techniques to evaluate cochlear synaptopathy in humans
by
Megarbane, Lynn
,
Fuente, Adrian
Published in
International journal of audiology
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Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
by
Adaimy, Lynn
,
Chouery, Eliane
,
Mégarbané, Hala
,
Mroueh, Salman
,
Delague, Valérie
,
Nicolas, Elsa
,
Belguith, Hanen
,
de Mazancourt, Philippe
,
Mégarbané, André
Published in
American journal of human genetics
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
by
Klopocki, Eva
,
Schulze, Harald
,
Strauß, Gabriele
,
Ott, Claus-Eric
,
Hall, Judith
,
Trotier, Fabienne
,
Fleischhauer, Silke
,
Greenhalgh, Lynn
,
Newbury-Ecob, Ruth A.
,
Neumann, Luitgard M.
,
Habenicht, Rolf
,
König, Rainer
,
Seemanova, Eva
,
Megarbane, André
,
Ropers, Hans-Hilger
,
Ullmann, Reinhard
,
Horn, Denise
,
Mundlos, Stefan
Published in
American journal of human genetics
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A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
by
Mehawej, Cybel
,
Ibrahim, Maroun
,
Khalife, Lynn
,
Chouery, Eliane
,
El Hachem, Setrida
,
Sayad, Alain
,
El Traboulsi, Aya
,
Inati, Adlette
,
Megarbane, Andre
Published in
Clinical genetics
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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
by
Hoffmann, Katrin
,
Müller, Juliane S.
,
Stricker, Sigmar
,
Megarbane, Andre
,
Rajab, Anna
,
Lindner, Tom H.
,
Cohen, Monika
,
Chouery, Eliane
,
Adaimy, Lynn
,
Ghanem, Ismat
,
Delague, Valerie
,
Boltshauser, Eugen
,
Talim, Beril
,
Horvath, Rita
,
Robinson, Peter N.
,
Lochmüller, Hanns
,
Hübner, Christoph
,
Mundlos, Stefan
Published in
American journal of human genetics
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