Ngā hua rapu kaituhi :: APM

1

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females mā K D MacDermot

I whakaputaina 2001

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Carta

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2

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males mā K D MacDermot

I whakaputaina 2001

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. mā K D MacDermot, A K Saggar-Malik, D. L. Economides, Steve Jeffery

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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4

Modification of the blood-brain barrier: increased concentration and fate of enzymes entering the brain. mā J. A. Barranger, С. И. Рапопорт, Wendy R. Fredericks, Peter G. Pentchev, K D MacDermot, Jan K. Steusing, Brady Ro

I whakaputaina 1979

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Artigo

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5

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia mā Slimane Allali, Carine Le Goff, I. Pressac-Diebold, G. Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F. Brady, Yanick J. Crow, Koenraad Devriendt, Valérie Drouin‐Garraud, Elisabeth Flori, D. Genevieve, R Hennekam, Jane A. Hurst, Deborah Krakow, M Le Merrer, Klaske D. Lichtenbelt, Sally Ann Lynch, Stanislas Lyonnet, K D MacDermot, Sahar Mansour, André Mégarbané, Helena G. Dos Santos, M. Splitt, Andrea Superti‐Furga, Sheila Unger, Denise Williams, A Munnich, Valérie Cormier‐Daire

I whakaputaina 2011

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Artigo

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6

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 mā Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann

I whakaputaina 2010

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Artigo

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