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Springer Nature4
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Human Genetics4
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20141
20132
20111
Esther Pohl results 4 · Newest (Page 1/1, per page 25)
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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutationNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 1 · Springer
Julia Schreml; Burak Durmaz; Ozgur Cogulu; Katharina Keupp; Filippo Beleggia; Esther Pohl; Esther Milz; Mahmut Coker; Sema Kalkan Ucar; Gudrun Nürnberg; Peter Nürnberg; Joachim Kuhn; Ferda Ozkinay
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Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 11 · Springer
Esther Pohl; Ayca Aykut; Filippo Beleggia; Emin Karaca; Burak Durmaz; Katharina Keupp; Esra Arslan; Melis Palamar; Gökhan Yigit; Ferda Özkinay; Bernd Wollnik
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A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 11 · Springer
Esther Pohl; Ayca Aykut; Filippo Beleggia; Emin Karaca; Burak Durmaz; Katharina Keupp; Esra Arslan; Melis Palamar Onay; Gökhan Yigit; Ferda Özkinay; Bernd Wollnik
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A mutation screen in patients with Kabuki syndromeNARA Subscribed
Human Genetics · 2011 · Vol. 130 · Issue 6 · Springer
Yun Li; Nina Bögershausen; Yasemin Alanay; Pelin Özlem Simsek Kiper; Nadine Plume; Katharina Keupp; Esther Pohl; Barbara Pawlik; Martin Rachwalski; Esther Milz; Michaela Thoenes; Beate Albrecht; Eva-Christina Prott; Margret Lehmkühler; Stephanie Demuth; Gülen Eda Utine; Koray Boduroglu; Katja Frankenbusch; Guntram Borck; Gabriele Gillessen-Kaesbach; Gökhan Yigit; Dagmar Wieczorek; Bernd Wollnik
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