Ngā hua rapu kaituhi

1

Genetic Disorders of the Skeleton: A Developmental Approach mā Uwe Kornak, Stefan Mundlos

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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2

Premature aging disorders: A clinical and genetic compendium mā Franziska Schnabel, Uwe Kornak, Bernd Wollnik

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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3

Metabolic cutis laxa syndromes mā Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Éva Morava

I whakaputaina 2011

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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4

Transport activity and presence of ClC‐7/Ostm1 complex account for different cellular functions mā Stefanie Weinert, Sabrina Jabs, Svea Hohensee, Wing Lee Chan, Uwe Kornak, Thomas J. Jentsch

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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5

A Novel <i>ANO5</i> Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis mā Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, Ralf Oheim

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency mā Satapathy, Amit Kumar, Pandey, Swati, Chaudhary, Madhumita Roy, Bagga, Arvind, Kabra, Madhulika, Uwe, Kornak, Gupta, Neerja

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Text

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7

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa mā Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

I whakaputaina 2009

Whiwhi kuputuhi katoa
Revisão

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8

Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro mā Erik Brauer, Tobias Lange, Daniela Keller, Sophie Görlitz, Simone Cho, Jacqueline Keye, Manfred Gossen, Ansgar Petersen, Uwe Kornak

I whakaputaina 2022

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man mā Uwe Kornak, Dagmar Kasper, Michael R. Bösl, Edelgard Kaiser, Michaela Schweizer, Ansgar Schulz, Wilhelm Friedrich, G. Delling, Thomas J. Jentsch

I whakaputaina 2001

Whiwhi kuputuhi katoa
Artigo

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10

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP) mā Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis mā Uwe Kornak, Ansgar Schulz, W Friedrich, Siegfried Uhlhaas, B Kremens, Thomas Voït, Carola Hasan, U. Bode, Thomas J. Jentsch, Christian Kubisch

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues mā Harald W.A. Ehlen, Milana Chinenkova, Markus Moser, Hans-Markus Munter, Yvonne Krause, Stefanie Groß, Bent Brachvogel, Manuela Wuelling, Uwe Kornak, Andrea Vortkamp

I whakaputaina 2012

Whiwhi kuputuhi katoa
Artigo

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13

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis mā Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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14

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions mā Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Sigmar Stricker, Erich E. Wanker, Stefan Mundlos

I whakaputaina 2004

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis mā Katherine Borthwick, Nurgün Kandemir, Rezan Topaloĝlu, Uwe Kornak, A Bakkaloglu, N Yordam, Seza Özen, H. Naci Mocan, G.N. Shah, William S. Sly, Fiona E. Karet

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 mā Björn Fischer‐Zirnsak, Bert Callewaert, Phillipe Schröter, Paul Coucke, Claire Schlack, Claus‐Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Éva Morava, Anna Ficcadenti, Uwe Kornak

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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17

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration mā Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann, Olaf Scheel, Oliver Zeitz, Klaus Rüether, Anja Schmitt, Mallorie Poët, Robert Steinfeld, Michaela Schweizer, Uwe Kornak, Thomas J. Jentsch

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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18

Cannabinoid receptor type 2 gene is associated with human osteoporosis mā Meliha Karsak, Martine Cohen‐Solal, Jan Freudenberg, Agnès Ostertag, C. Morieux, Uwe Kornak, Julia Essig, Edda Erxlebe, Itai Bab, Christian Kubisch, Marie‐Christine de Vernejoul, Andreas Zimmer

I whakaputaina 2005

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Congenital disorders of glycosylation (CDG): Quo vadis? mā Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Éva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken

I whakaputaina 2017

Whiwhi kuputuhi katoa
Revisão

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20

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients mā Leila Amini, Dimitrios L. Wagner, Uta Rössler, Ghazaleh Zarrinrad, Livia Felicitas Wagner, Tino Vollmer, Désirée J. Wendering, Uwe Kornak, Hans‐Dieter Volk, Petra Reinke, Michael Schmueck‐Henneresse

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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Ngā hua rapu - Uwe Kornak

Genetic Disorders of the Skeleton: A Developmental Approach mā Uwe Kornak, Stefan Mundlos

Premature aging disorders: A clinical and genetic compendium mā Franziska Schnabel, Uwe Kornak, Bernd Wollnik

Metabolic cutis laxa syndromes mā Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Éva Morava

Transport activity and presence of ClC‐7/Ostm1 complex account for different cellular functions mā Stefanie Weinert, Sabrina Jabs, Svea Hohensee, Wing Lee Chan, Uwe Kornak, Thomas J. Jentsch

A Novel <i>ANO5</i> Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis mā Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke, Ralf Oheim

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency mā Satapathy, Amit Kumar, Pandey, Swati, Chaudhary, Madhumita Roy, Bagga, Arvind, Kabra, Madhulika, Uwe, Kornak, Gupta, Neerja

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa mā Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro mā Erik Brauer, Tobias Lange, Daniela Keller, Sophie Görlitz, Simone Cho, Jacqueline Keye, Manfred Gossen, Ansgar Petersen, Uwe Kornak

Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man mā Uwe Kornak, Dagmar Kasper, Michael R. Bösl, Edelgard Kaiser, Michaela Schweizer, Ansgar Schulz, Wilhelm Friedrich, G. Delling, Thomas J. Jentsch

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP) mā Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis mā Uwe Kornak, Ansgar Schulz, W Friedrich, Siegfried Uhlhaas, B Kremens, Thomas Voït, Carola Hasan, U. Bode, Thomas J. Jentsch, Christian Kubisch

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis mā Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions mā Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Sigmar Stricker, Erich E. Wanker, Stefan Mundlos

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis mā Katherine Borthwick, Nurgün Kandemir, Rezan Topaloĝlu, Uwe Kornak, A Bakkaloglu, N Yordam, Seza Özen, H. Naci Mocan, G.N. Shah, William S. Sly, Fiona E. Karet

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration mā Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann, Olaf Scheel, Oliver Zeitz, Klaus Rüether, Anja Schmitt, Mallorie Poët, Robert Steinfeld, Michaela Schweizer, Uwe Kornak, Thomas J. Jentsch

Cannabinoid receptor type 2 gene is associated with human osteoporosis mā Meliha Karsak, Martine Cohen‐Solal, Jan Freudenberg, Agnès Ostertag, C. Morieux, Uwe Kornak, Julia Essig, Edda Erxlebe, Itai Bab, Christian Kubisch, Marie‐Christine de Vernejoul, Andreas Zimmer

Congenital disorders of glycosylation (CDG): Quo vadis? mā Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Éva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken

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