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NARA Subscribed4
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Springer Nature4
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✓Human Genetics4
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20241
20181
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Issa results 4 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Issa ×Clear All Filters
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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 11 · Springer
Guillaume Cogan; Maha S. Zaki; Mahmoud Issa; Boris Keren; Marine Guillaud-Bataille; Florence Renaldo; Arnaud Isapof; Pauline Lallemant; Giovanni Stevanin; Lena Guillot-Noel; Thomas Courtin; Julien Buratti; Cécile Freihuber; Joseph G. Gleeson; Robyn Howarth; Alexandra Durr; Jean-Madeleine de Sainte Agathe; Cyril Mignot
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)NARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 9 · Springer
Nuria C. Bramswig; Aida M. Bertoli-Avella; Beate Albrecht; Aida I. Al Aqeel; Amal Alhashem; Nouriya Al-Sannaa; Maissa Bah; Katharina Bröhl; Christel Depienne; Nathalie Dorison; Diane Doummar; Nadja Ehmke; Hasnaa M. Elbendary; Svetlana Gorokhova; Delphine Héron; Denise Horn; Kiely James; Boris Keren; Alma Kuechler; Samira Ismail; Mahmoud Y. Issa; Isabelle Marey; Michèle Mayer; Jennifer McEvoy-Venneri; Andre Megarbane; Cyril Mignot; Sarar Mohamed; Caroline Nava; Nicole Philip; Cecile Ravix; Arndt Rolfs; Abdelrahim Abdrabou Sadek; Lara Segebrecht; Valentina Stanley; Camille Trautman; Stephanie Valence; Laurent Villard; Thomas Wieland; Hartmut Engels; Tim M. Strom; Maha S. Zaki; Joseph G. Gleeson; Hermann-Josef Lüdecke; Peter Bauer; Dagmar Wieczorek
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Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish modelNARA Subscribed
Human Genetics · 2011 · Vol. 130 · Issue 5 · Springer
Antje Brockschmidt; Alida Filippi; Peter Charbel Issa; Michael Nelles; Horst Urbach; Nicole Eter; Wolfgang Driever; Ruthild G. Weber
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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing lossNARA Subscribed
Human Genetics · 2007 · Vol. 121 · Issue 2 · Springer
Inga Ebermann; Hendrik P. N. Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen Lamprecht; Bernhard Jurklies; José M. Millán; Elena Aller; Diana Mitter; Hanno Bolz
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