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Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
By:
- Lange, Lara M.;
- Schell, Nathalie;
- Tunc, Sinem;
- Shoukier, Moneef;
- Weißbach, Anne;
- Hellenbroich, Yorck;
- Brüggemann, Norbert
Publication type:
Article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Published in:
2018
By:
- Lessel, Davor;
- Gehbauer, Christina;
- Bramswig, Nuria C;
- Schluth-Bolard, Caroline;
- Venkataramanappa, Sathish;
- Gassen, Koen L I van;
- Hempel, Maja;
- Haack, Tobias B;
- Baresic, Anja;
- Genetti, Casie A;
- van Gassen, Koen L I;
- Funari, Mariana F A;
- Lessel, Ivana;
- Kuhlmann, Leonie;
- Simon, Ruth;
- Liu, Pentao;
- Denecke, Jonas;
- Kuechler, Alma;
- de Kruijff, Ineke;
- Shoukier, Moneef
Publication type:
journal article
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series.
Published in:
Life (2075-1729), 2024, v. 14, n. 5, p. 628, doi. 10.3390/life14050628
By:
- Marchetto, Aruna;
- Leidescher, Susanne;
- van Hoi, Theresia;
- Hirschberger, Niklas;
- Vogel, Florian;
- Köhler, Siegmund;
- Bedei, Ivonne Alexandra;
- Axt-Fliedner, Roland;
- Shoukier, Moneef;
- Keil, Corinna
Publication type:
Article
A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593
By:
- Scala, Marcello;
- Accogli, Andrea;
- De Grandis, Elisa;
- Allegri, Anna;
- Bagowski, Christoph P.;
- Shoukier, Moneef;
- Maghnie, Mohamad;
- Capra, Valeria
Publication type:
Article
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2634, doi. 10.1002/ajmg.a.36129
By:
- Maria Christina Schwaibold, Eva;
- Zoll, Barbara;
- Burfeind, Peter;
- Hobbiebrunken, Elke;
- Wilken, Bernd;
- Funke, Rudolf;
- Shoukier, Moneef
Publication type:
Article
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 652, doi. 10.1002/ajmg.a.34439
By:
- Pauli, Silke;
- Steinemann, Doris;
- Dittmann, Kai;
- Wienands, Jürgen;
- Shoukier, Moneef;
- Möschner, Marita;
- Burfeind, Peter;
- Manukjan, Georgi;
- Göhring, Gudrun;
- Escherich, Gabriele
Publication type:
Article
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 429, doi. 10.1002/ajmg.a.34427
By:
- Shoukier, Moneef;
- Schröder, Julia;
- Zoll, Barbara;
- Burfeind, Peter;
- Freiberg, Clemens;
- Klinge, Lars;
- Kriebel, Thomas;
- Lingen, Michael;
- Mohr, Alexander;
- Brockmann, Knut
Publication type:
Article
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 229, doi. 10.1002/ajmg.a.34387
By:
- Shoukier, Moneef;
- Wickert, Julia;
- Schröder, Julia;
- Bartels, Iris;
- Auber, Bernd;
- Zoll, Barbara;
- Salinas-Riester, Gabriela;
- Weise, Dagmar;
- Brockmann, Knut;
- Zirn, Birgit;
- Burfeind, Peter
Publication type:
Article
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
Published in:
2013
By:
- Behnes, Carl Ludwig;
- Schlegel, Christina;
- Shoukier, Moneef;
- Magiera, Isabella;
- Henschke, Frank;
- Schwarz, Alexander;
- Bremmer, Felix;
- Loertzer, Hagen
Publication type:
Case Study
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Published in:
2009
By:
- Shoukier, Moneef;
- Neesen, Juergen;
- Sauter, Simone M.;
- Argyriou, Loukas;
- Doerwald, Nadine;
- Pantakani, D. V. Krishna;
- Mannan, Ashraf U.
Publication type:
Correction Notice
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 2, p. 187, doi. 10.1038/ejhg.2008.147
By:
- Shoukier, Moneef;
- Neesen, Juergen;
- Sauter, Simone M.;
- Argyriou, Loukas;
- Doerwald, Nadine;
- Pantakani, D. V. Krishna;
- Mannan, Ashraf U.
Publication type:
Article
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Published in:
Science Immunology, 2021, v. 6, n. 57, p. 1, doi. 10.1126/sciimmunol.abc9801
By:
- Holmes, Tim D.;
- Pandey, Ram Vinay;
- Helm, Eric Y.;
- Schlums, Heinrich;
- Han, Hongya;
- Campbell, Tessa M.;
- Drashansky, Theodore T.;
- Chiang, Samuel;
- Wu, Cheng-Ying;
- Tao, Christine;
- Shoukier, Moneef;
- Tolosa, Eva;
- Von Hardenberg, Sandra;
- Sun, Miao;
- Klemann, Christian;
- Marsh, Rebecca A.;
- Lau, Colleen M.;
- Lin, Yin;
- Sun, Joseph C.;
- Månsson, Robert
Publication type:
Article
Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization.
Published in:
Journal of Neurochemistry, 2021, v. 157, n. 4, p. 1331, doi. 10.1111/jnc.15215
By:
- Pan, Yingzhou Edward;
- Tibbe, Debora;
- Harms, Frederike Leonie;
- Reißner, Carsten;
- Becker, Kerstin;
- Dingmann, Bri;
- Mirzaa, Ghayda;
- Kattentidt‐Mouravieva, Anja A.;
- Shoukier, Moneef;
- Aggarwal, Shagun;
- Missler, Markus;
- Kutsche, Kerstin;
- Kreienkamp, Hans‐Jürgen
Publication type:
Article
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 1034, doi. 10.3390/diagnostics11061034
By:
- Bulfamante, Gaetano Pietro;
- Carpenito, Laura;
- Bragantini, Emma;
- Graziani, Silvia;
- Bellizzi, Maria;
- Bagowski, Christoph Peter;
- Shoukier, Moneef;
- Rivieri, Francesca;
- Soffiati, Massimo;
- Barbareschi, Mattia
Publication type:
Article
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2003, doi. 10.1002/ajmg.a.34122
By:
- Stettner, Georg M.;
- Shoukier, Moneef;
- Höger, Christoph;
- Brockmann, Knut;
- Auber, Bernd
Publication type:
Article
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Published in:
Human Mutation, 2010, v. 31, n. 5, p. 617, doi. 10.1002/humu.21226
By:
- Bonn, Florian;
- Pantakani, Krishna;
- Shoukier, Moneef;
- Langer, Thomas;
- Mannan, Ashraf U.
Publication type:
Article
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Published in:
Genes, 2022, v. 13, n. 2, p. 169, doi. 10.3390/genes13020169
By:
- Keil, Laura;
- Berisha, Filip;
- Knappe, Dorit;
- Kubisch, Christian;
- Shoukier, Moneef;
- Kirchhof, Paulus;
- Fabritz, Larissa;
- Hellenbroich, Yorck;
- Woitschach, Rixa;
- Magnussen, Christina
Publication type:
Article

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