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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Male remover assunto: Science & Technology remover
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

van der Knaap, Marjo S. ; van Berkel, Carola G.M. ; Herms, Jochen ; van Coster, Rudy ; Baethmann, Martina ; Naidu, Sakkubai ; Boltshauser, Eugen ; Willemsen, Michèl A.A.P. ; Plecko, Barbara ; Hoffmann, Georg F. ; Proud, Christopher G. ; Scheper, Gert C. ; Pronk, Jan C.

American journal of human genetics, 2003-11, Vol.73 (5), p.1199-1207 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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2
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
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ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility

Broeks, Annegien ; Urbanus, Jos H.M. ; Floore, Arno N. ; Dahler, Ellen C. ; Klijn, Jan G.M. ; Rutgers, Emiel J. Th ; Devilee, Peter ; Russell, Nicola S. ; van Leeuwen, Flora E. ; van't Veer, Laura J.

American journal of human genetics, 2000-02, Vol.66 (2), p.494-500 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, Cecilie ; Saunier, Sophie ; Oud, Machteld M. ; Fiskerstrand, Torunn ; Hoischen, Alexander ; Brackman, Damien ; Leh, Sabine M. ; Midtbø, Marit ; Filhol, Emilie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Gilissen, Christian ; Haugen, Olav H. ; Sanders, Jan-Stephan F. ; Stolte-Dijkstra, Irene ; Mans, Dorus A. ; Steenbergen, Eric J. ; Hamel, Ben C.J. ; Matignon, Marie ; Pfundt, Rolph ; Jeanpierre, Cécile ; Boman, Helge ; Rødahl, Eyvind ; Veltman, Joris A. ; Knappskog, Per M. ; Knoers, Nine V.A.M. ; Roepman, Ronald ; Arts, Heleen H.

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Huigsloot, Merei ; Nijtmans, Leo G. ; Szklarczyk, Radek ; Baars, Marieke J.H. ; van den Brand, Mariël A.M. ; HendriksFranssen, Marthe G.M. ; van den Heuvel, Lambertus P. ; Smeitink, Jan A.M. ; Huynen, Martijn A. ; Rodenburg, Richard J.T.

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
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Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Dam, Anika H.D.M. ; Koscinski, Isabelle ; Kremer, Jan A.M. ; Moutou, Céline ; Jaeger, Anne-Sophie ; Oudakker, Astrid R. ; Tournaye, Herman ; Charlet, Nicolas ; Lagier-Tourenne, Clotilde ; van Bokhoven, Hans ; Viville, Stéphane

American journal of human genetics, 2007-10, Vol.81 (4), p.813-820 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
VPS35 Mutations in Parkinson Disease
VPS35 Mutations in Parkinson Disease
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VPS35 Mutations in Parkinson Disease

Vilariño-Güell, Carles ; Wider, Christian ; Ross, Owen A. ; Dachsel, Justus C. ; Kachergus, Jennifer M. ; Lincoln, Sarah J. ; Soto-Ortolaza, Alexandra I. ; Cobb, Stephanie A. ; Wilhoite, Greggory J. ; Bacon, Justin A. ; Behrouz, Bahareh ; Melrose, Heather L. ; Hentati, Emna ; Puschmann, Andreas ; Evans, Daniel M. ; Conibear, Elizabeth ; Wasserman, Wyeth W. ; Aasly, Jan O. ; Burkhard, Pierre R. ; Djaldetti, Ruth ; Ghika, Joseph ; Hentati, Faycal ; Krygowska-Wajs, Anna ; Lynch, Tim ; Melamed, Eldad ; Rajput, Alex ; Rajput, Ali H. ; Solida, Alessandra ; Wu, Ruey-Meei ; Uitti, Ryan J. ; Wszolek, Zbigniew K. ; Vingerhoets, François ; Farrer, Matthew J.

American journal of human genetics, 2011-07, Vol.89 (1), p.162-167 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B. ; Rodenburg, Richard J. ; van der Knaap, Marjo S. ; Smeitink, Jan A.M. ; Chrzanowska-Lightowlers, Zofia M. ; Shoubridge, Eric A.

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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8
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P. ; Lambert, Jean-Charles ; Rasi, Chiara ; Giedraitis, Vilmantas ; Davies, Hanna ; Grenier-Boley, Benjamin ; Lindgren, Cecilia M. ; Campion, Dominique ; Dufouil, Carole ; Pasquier, Florence ; Amouyel, Philippe ; Lannfelt, Lars ; Ingelsson, Martin ; Kilander, Lena ; Lind, Lars ; Forsberg, Lars A.

American journal of human genetics, 2016-06, Vol.98 (6), p.1208-1219 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Saada, Ann ; Vogel, Rutger O. ; Hoefs, Saskia J. ; van den Brand, Mariël A. ; Wessels, Hans J. ; Willems, Peter H. ; Venselaar, Hanka ; Shaag, Avraham ; Barghuti, Flora ; Reish, Orit ; Shohat, Mordechai ; Huynen, Martijn A. ; Smeitink, Jan A.M. ; van den Heuvel, Lambert P. ; Nijtmans, Leo G.

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina ; Vona, Barbara ; Pagnamenta, Alistair T. ; Maroofian, Reza ; Beetz, Christian ; van Duyvenvoorde, Hermine ; Dentici, Maria Lisa ; Lauffer, Peter ; Vallian, Sadeq ; Ciolfi, Andrea ; Pizzi, Simone ; Bauer, Peter ; Grüning, Nana-Maria ; Bellacchio, Emanuele ; Del Fattore, Andrea ; Petrini, Stefania ; Shaheen, Ranad ; Tiosano, Dov ; Halloun, Rana ; Pode-Shakked, Ben ; Albayrak, Hatice Mutlu ; Işık, Emregül ; Wit, Jan M. ; Dittrich, Marcus ; Freire, Bruna L. ; Bertola, Debora R. ; Jorge, Alexander A.L. ; Barel, Ortal ; Sabir, Ataf H. ; Al Tenaiji, Amal M.J. ; Taji, Sulaima M. ; Al-Sannaa, Nouriya ; Al-Abdulwahed, Hind ; Digilio, Maria Cristina ; Irving, Melita ; Anikster, Yair ; Bhavani, Gandham S.L. ; Girisha, Katta M. ; Haaf, Thomas ; Taylor, Jenny C. ; Dallapiccola, Bruno ; Alkuraya, Fowzan S. ; Yang, Ruey-Bing ; Tartaglia, Marco

American journal of human genetics, 2021-01, Vol.108 (1), p.115-133 [Periódico revisado por pares]

United States: Elsevier Inc

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