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Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
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Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Motta, Marialetizia ; Fidan, Miray ; Bellacchio, Emanuele ; Pantaleoni, Francesca ; Schneider-Heieck, Konstantin ; Coppola, Simona ; Borck, Guntram ; Salviati, Leonardo ; Zenker, Martin ; Cirstea, Ion C ; Tartaglia, Marco

Human molecular genetics, 2019-03, Vol.28 (6), p.1007-1022 [Periódico revisado por pares]

England: Oxford University Press

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2
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc
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The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

Ambrozkiewicz, Mateusz C ; Borisova, Ekaterina ; Schwark, Manuela ; Ripamonti, Silvia ; Schaub, Theres ; Smorodchenko, Alina ; Weber, A Ioana ; Rhee, Hong Jun ; Altas, Bekir ; Yilmaz, Rüstem ; Mueller, Susanne ; Piepkorn, Lars ; Horan, Stephen T ; Straussberg, Rachel ; Zaqout, Sami ; Jahn, Olaf ; Dere, Ekrem ; Rosário, Marta ; Boehm-Sturm, Philipp ; Borck, Guntram ; Willig, Katrin I ; Rhee, JeongSeop ; Tarabykin, Victor ; Kawabe, Hiroshi

Molecular psychiatry, 2021-06, Vol.26 (6), p.1980-1995 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Comprehensive analysis of the mutation spectrum in 301 German ALS families
Comprehensive analysis of the mutation spectrum in 301 German ALS families
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Comprehensive analysis of the mutation spectrum in 301 German ALS families

Müller, Kathrin ; Brenner, David ; Weydt, Patrick ; Meyer, Thomas ; Grehl, Torsten ; Petri, Susanne ; Grosskreutz, Julian ; Schuster, Joachim ; Volk, Alexander E ; Borck, Guntram ; Kubisch, Christian ; Klopstock, Thomas ; Zeller, Daniel ; Jablonka, Sibylle ; Sendtner, Michael ; Klebe, Stephan ; Knehr, Antje ; Günther, Kornelia ; Weis, Joachim ; Claeys, Kristl G ; Schrank, Berthold ; Sperfeld, Anne-Dorte ; Hübers, Annemarie ; Otto, Markus ; Dorst, Johannes ; Meitinger, Thomas ; Strom, Tim M ; Andersen, Peter M ; Ludolph, Albert C ; Weishaupt, Jochen H

Journal of neurology, neurosurgery and psychiatry, 2018-08, Vol.89 (8), p.817-827 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

JAMRA, Rami Abou ; PHILIPPE, Orianne ; MUNNICH, Arnold ; STROM, Tim M ; REIS, Andre ; COLLEAUX, Laurence ; RAAS-ROTHSCHILD, Annick ; ECK, Sebastian H ; GRAF, Elisabeth ; BUCHERT, Rebecca ; BORCK, Guntram ; EKICI, Arif ; BROCKSCHMIDT, Felix F ; NÖTHEN, Markus M

American journal of human genetics, 2011-06, Vol.88 (6), p.788-795 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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5
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene
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Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Ludwig, Kerstin U ; Ahmed, Syeda Tasnim ; Böhmer, Anne C ; Sangani, Nasim Bahram ; Varghese, Sheryil ; Klamt, Johanna ; Schuenke, Hannah ; Gültepe, Pinar ; Hofmann, Andrea ; Rubini, Michele ; Aldhorae, Khalid Ahmed ; Steegers-Theunissen, Regine P ; Rojas-Martinez, Augusto ; Reiter, Rudolf ; Borck, Guntram ; Knapp, Michael ; Nakatomi, Mitsushiro ; Graf, Daniel ; Mangold, Elisabeth ; Peters, Heiko Wilkie, Andrew O. M.

PLoS genetics, 2016-03, Vol.12 (3), p.e1005914-e1005914 [Periódico revisado por pares]

United States: Public Library of Science

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6
KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer
KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer
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KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

Simó-Riudalbas, Laia ; Pérez-Salvia, Montserrat ; Setien, Fernando ; Villanueva, Alberto ; Moutinho, Catia ; Martínez-Cardús, Anna ; Moran, Sebastian ; Berdasco, Maria ; Gomez, Antonio ; Vidal, Enrique ; Soler, Marta ; Heyn, Holger ; Vaquero, Alejandro ; de la Torre, Carolina ; Barceló-Batllori, Silvia ; Vidal, August ; Roz, Luca ; Pastorino, Ugo ; Szakszon, Katalin ; Borck, Guntram ; Moura, Conceição S ; Carneiro, Fátima ; Zondervan, Ilse ; Savola, Suvi ; Iwakawa, Reika ; Kohno, Takashi ; Yokota, Jun ; Esteller, Manel

Cancer research (Chicago, Ill.), 2015-09, Vol.75 (18), p.3936-3945 [Periódico revisado por pares]

United States

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7
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C. ; Schanze, Denny ; Baynam, Gareth ; Borck, Guntram ; Bramswig, Nuria C. ; Duman, Duygu ; Gilbert‐Dussardier, Brigitte ; Holder‐Espinasse, Muriel ; Itin, Peter ; Johnson, Diana S. ; Joss, Shelagh ; Koillinen, Hannele ; McKenzie, Fiona ; Morton, Jenny ; Nelle, Heike ; Reardon, Willie ; Roll, Claudia ; Salih, Mustafa A. ; Savarirayan, Ravi ; Scurr, Ingrid ; Splitt, Miranda ; Thompson, Elizabeth ; Titheradge, Hannah ; Travers, Colm P. ; Maldergem, Lionel ; Whiteford, Margo ; Wieczorek, Dagmar ; Vandeweyer, Geert ; Trembath, Richard ; Laer, Lut ; Loeys, Bart L. ; Zenker, Martin ; Southgate, Laura ; Wuyts, Wim

Human mutation, 2018-09, Vol.39 (9), p.1246-1261 [Periódico revisado por pares]

United States: Hindawi Limited

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8
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
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ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Morozko, Eva L ; Nishio, Ayako ; Ingham, Neil J ; Chandra, Rashmi ; Fitzgerald, Tracy ; Martelletti, Elisa ; Borck, Guntram ; Wilson, Elizabeth ; Riordan, Gavin P ; Wangemann, Philine ; Forge, Andrew ; Steel, Karen P ; Liddle, Rodger A ; Friedman, Thomas B ; Belyantseva, Inna A

Human molecular genetics, 2015-02, Vol.24 (3), p.609-624 [Periódico revisado por pares]

England: Oxford University Press

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9
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Renner, Sina ; Schüler, Helke ; Alawi, Malik ; Kolbe, Verena ; Rybczynski, Meike ; Woitschach, Rixa ; Sheikhzadeh, Sara ; Stark, Veronika C ; Olfe, Jakob ; Roser, Elke ; Seggewies, Friederike Sophia ; Mahlmann, Adrian ; Hempel, Maja ; Hartmann, Melanie J ; Hillebrand, Mathias ; Wieczorek, Dagmar ; Volk, Alexander Erich ; Kloth, Katja ; Koch-Hogrebe, Margarete ; Abou Jamra, Rami ; Mitter, Diana ; Altmüller, Janine ; Wey-Fabrizius, Alexandra ; Petersen, Christine ; Rau, Isabella ; Borck, Guntram ; Kubisch, Christian ; Mir, Thomas S ; von Kodolitsch, Yskert ; Kutsche, Kerstin ; Rosenberger, Georg

Genetics in medicine, 2019-08, Vol.21 (8), p.1832-1841 [Periódico revisado por pares]

United States: Elsevier Limited

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10
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind ; Khan, Amjad ; Tian, Songhai ; Hill, R. Sean ; Smith, Richard S. ; Majmundar, Amar J. ; Ameziane, Najim ; Neil, Jennifer E. ; Yang, Edward ; Al Tenaiji, Amal ; Jamuar, Saumya S. ; Schlaeger, Thorsten M. ; Al-Saffar, Muna ; Hovel, Iris ; Al-Shamsi, Aisha ; Basel-Salmon, Lina ; Amir, Achiya Z. ; Rento, Lariza M. ; Lim, Jiin Ying ; Ganesan, Indra ; Shril, Shirlee ; Evrony, Gilad ; Barkovich, A. James ; Bauer, Peter ; Hildebrandt, Friedhelm ; Dong, Min ; Borck, Guntram ; Beetz, Christian ; Al-Gazali, Lihadh ; Eyaid, Wafaa ; Walsh, Christopher A.

Genetics in medicine, 2021-06, Vol.23 (6), p.1158-1162 [Periódico revisado por pares]

United States: Elsevier Inc

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