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NARA Subscribed Scholarly Literature Discovery
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Springer Nature
3
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Human Genetics
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Journal of Molecular Medicine
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2015
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2001
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2000
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David F. Callen
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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
NARA Subscribed
Human Genetics
· 2015 · Vol. 134 · Issue 2 · Springer
Katherina Walz
;
Devon Cohen
;
Paul M. Neilsen
;
Joseph Foster
;
Francesco Brancati
;
Korcan Demir
;
Richard Fisher
;
Michelle Moffat
;
Nienke E. Verbeek
;
Kathrine Bjørgo
;
Adriana Lo Castro
;
Paolo Curatolo
;
Giuseppe Novelli
;
Clemer Abad
;
Cao Lei
;
Lily Zhang
;
Oscar Diaz-Horta
;
Juan I. Young
;
David F. Callen
;
Mustafa Tekin
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A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum
NARA Subscribed
Journal of Molecular Medicine
· 2001 · Vol. 79 · Issue 9 · Springer
Li Cai
;
Amanda Lumsden
;
Ulf P. Guenther
;
Sarah A. Neldner
;
Stéphanie Zäch
;
Hans Knoblauch
;
Raj Ramesar
;
Daniel Hohl
;
David F. Callen
;
Kenneth H. Neldner
;
Klaus Lindpaintner
;
Robert I. Richards
;
Berthold Struk
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A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
NARA Subscribed
Journal of Molecular Medicine
· 2000 · Vol. 78 · Issue 1 · Springer
Li Cai
;
Berthold Struk
;
Mark D. Adams
;
Wan Ji
;
Thomas Haaf
;
Hyung-Lyun Kang
;
So Hee Dho
;
Xuequn Xu
;
Franziska Ringpfeil
;
Julie Nancarrow
;
Stéphanie Zäch
;
Lori Schaen
;
Markus Stumm
;
Tianhua Niu
;
Joon Chung
;
Karsten Lunze
;
Bradford Verrecchia
;
Lowell A. Goldsmith
;
Denis Viljoen
;
Luis E. Figuera
;
Wayne Fuchs
;
Mark Lebwohl
;
Jouni Uitto
;
Robert Richards
;
Daniel Hohl
;
Raj Ramesar
;
David F. Callen
;
Ung-Jin Kim
;
Norman A. Doggett
;
Kenneth H. Neldner
;
Klaus Lindpaintner
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