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In Genetics in Medicine Open 2024 2

Spurdle, AB; Whiley, PJ; Thompson, B; Feng, B; Healey, S; Brown, MA; Pettigrew, C; Van, Asperen CJ; Ausems, MGEM; Kattentidt-Mouravieva, AA

JOURNAL OF MEDICAL GENETICS. 49(8):525-532

Katrine M. Johannesen; Jimmi Nielsen; Anne Sabers; Bertrand Isidor; Anja A. Kattentidt-Mouravieva; Dominik Zieglgänsberger; Alexis R. Heidlebaugh; Kathryn F. Oetjens; Anna Abuli Vidal; Jakob Christensen; Jacob Tiller; Amber N. Freed; Rikke S. Møller; Guido Rubboli

Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B, Kattentidt-Mouravieva, A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, 'The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders', Frontiers in Neuroscience, vol. 17, 1216653. https://doi.org/10.3389/fnins.2023.1216653
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B, Kattentidt-Mouravieva, A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, ' The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders ', Frontiers in Neuroscience, vol. 17, 1216653 . https://doi.org/10.3389/fnins.2023.1216653

Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli

Front Neurosci
Frontiers in Neuroscience, Vol 17 (2023)

Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli

Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)

den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.

American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
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Karlijn Pellikaan; Anna G W Rosenberg; Anja A Kattentidt-Mouravieva; Rogier Kersseboom; Anja G Bos-Roubos; José M C Veen-Roelofs; Nina van Wieringen; Franciska M E Hoekstra; Sjoerd A A van den Berg; Aart Jan van der Lely; Laura C G de Graaff

J Clin Endocrinol Metab
Journal of Clinical Endocrinology and Metabolism, 105, 12, pp. e4671-e4687

W J, Idema; D N, Konz; A F, Mulder; A A, Kattentidt-Mouravieva; M C, Kasius; W A, Ester

Tijdschrift voor psychiatrie. 64(10)

Poulton CJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Germany.; Schot R; Seufert K; Lequin MH; Accogli A; Annunzio GD; Villard L; Philip N; de Coo R; Catsman-Berrevoets C; Grasshoff U; Kattentidt-Mouravieva A; Calf H; de Vreugt-Gronloh E; van Unen L; Verheijen FW; Galjart N; Morris-Rosendahl DJ; Mancini GM

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Van Scherpenzeel M; 1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands.; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Aaron D Besterman; Thorsten Althoff; Peter Elfferich; Irma Gutierrez-Mejia; Joshua Sadik; Jonathan A Bernstein; Yvette van Ierland; Anja A Kattentidt-Mouravieva; Mark Nellist; Jeff Abramson; Julian A Martinez-Agosto

PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)

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J Endocr Soc

Van Dijk R.; Mayayo-Peralta I.; Aronson S.J.; Kattentidt-Mouravieva A.A.; Van Der Mark V.A.; De Knegt R.; Oruc N.; Beuers U.; Bosma P.J.

Journal of Hepatology. 63:1525-1529

den Hoed, J.; de Boer, E.; Voisin, N.; Guex, N.; Blok, L. Snijders; Chrast, J.; Manwaring, L.; Willing, M.; Waheeb, A.; Osmond, M.; Mcwalter, K.; Vitobello, A.; Demurger, F.; Lavillaureix, A.; Odent, S.; Mazel, B.; Faivre, L.; Thiffault, I.; Schwager, C.; Amudhavalli, S. M.; Rosenfeld, J. A.; Radtke, K.; Preiksaitiene, E.; Ranza, E.; Depienne, C.; Kuechler, A.; Mohammed, S.; Abedi, Y. Hamzavi; Bonagura, V. R.; Zuccarelli, B.; Horist, B.; Krishnamurthy, V.; Kattentidt-Mouravieva, A. A.; Granger, L.; Petersen, A.; Jones, K. L.; Sinnema, M.; Stegmann, A. P. A.; Newbury-Ecob, R.; Kini, U.; Newbury, D. F.; Gilissen, C.; Brunner, H.; Kleefstra, T.; Reymond, A.; Vissers, L. E. L. M.; Fisher, S. E.

Kattentidt-Mouravieva, AA; Heijer, Mariska; van Kessel, I (Ingrid); Wagner, Anja

Familial Cancer. 13:391-399

Kattentidt-Mouravieva, AA; Geurts-Giele, IRR; de Krijger, Ronald; Noesel, MM; Ven, CP; van den Ouweland, Ans; Kromosoeto, Joan; Dinjens, Winand; Dubbink, Erik jan; Smits, Ron; Wagner, Anja

European Journal of Cancer. 48:1867-1874

Anna G. W. Rosenberg; Minke R. A. Pater; Karlijn Pellikaan; Kirsten Davidse; Anja A. Kattentidt-Mouravieva; Rogier Kersseboom; Anja G. Bos-Roubos; Agnies van Eeghen; José M. C. Veen; Jiske J. van der Meulen; Nina van Aalst-van Wieringen; Franciska M. E. Hoekstra; Aart J. van der Lely; Laura C. G. de Graaff

J Clin Med
Journal of Clinical Medicine; Volume 10; Issue 22; Pages: 5457
Rosenberg, A G W, Pater, M R A, Pellikaan, K, Davidse, K, Kattentidt-Mouravieva, A A, Kersseboom, R, Bos-Roubos, A G, van Eeghen, A, Veen, J M C, van der Meulen, J J, van Aalst-van Wieringen, N, Hoekstra, F M E, van der Lely, A J & de Graaff, L C G 2021, 'What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications : Five years of ‘internal medicine for rare genetic syndromes’', Clinical Chemistry, vol. 10, no. 22, 5457. https://doi.org/10.3390/jcm10225457
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Karlijn Pellikaan; Anna G. W. Rosenberg; Kirsten Davidse; Anja A. Kattentidt-Mouravieva; Rogier Kersseboom; Anja G. Bos-Roubos; Lionne N. Grootjen; Layla Damen; Sjoerd A. A. van den Berg; Aart J. van der Lely; Anita C. S. Hokken-Koelega; Laura C. G. de Graaff

J Clin Med
Journal of Clinical Medicine
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Journal of Clinical Medicine, 10, 15

Aaron Besterman; Thorsten Althoff; Peter Elfferich; Mark Sonneveld; Irma Gutierrez-Mejia; Joshua Sadik; Jonathan Bernstein; Anja Kattentidt‐Mouravieva; Yvette van Ierland; Mark Nellist; Jeff Abramson; Julian Martinez-Agosto

Molecular Genetics and Metabolism. 132:S107

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