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1
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

Salehi Karlslätt, Karin ; Pettersson, Maria ; Jäntti, Nina ; Szafranski, Przemyslaw ; Wester, Tomas ; Husberg, Britt ; Ullberg, Ulla ; Stankiewicz, Pawel ; Nordgren, Ann ; Lundin, Johanna ; Lindstrand, Anna ; Nordenskjöld, Agneta

Molecular genetics & genomic medicine, 2019-03, Vol.7 (3), p.e549-n/a [Peer Reviewed Journal]

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2
Two novel mutations in XYLT2 cause spondyloocular syndrome
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Two novel mutations in XYLT2 cause spondyloocular syndrome

Taylan, Fulya ; Yavaş Abalı, Zehra ; Jäntti, Nina ; Güneş, Nilay ; Darendeliler, Feyza ; Baş, Firdevs ; Poyrazoğlu, Şükran ; Tamçelik, Nevbahar ; Tüysüz, Beyhan ; Mäkitie, Outi

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3195-3200 [Peer Reviewed Journal]

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3
Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
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Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

Laurell, Tobias ; Nilsson, Daniel ; Hofmeister, Wolfgang ; Lindstrand, Anna ; Ahituv, Nadav ; Vandermeer, Julia ; Amilon, Anders ; Annerén, Göran ; Arner, Marianne ; Pettersson, Maria ; Jäntti, Nina ; Rosberg, Hans‐Eric ; Cattini, Peter A ; Nordenskjöld, Agneta ; Mäkitie, Outi ; Grigelioniene, Giedre ; Nordgren, Ann

Molecular genetics & genomic medicine, 2014-09, Vol.2 (5), p.402-411 [Peer Reviewed Journal]

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4
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
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Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

Grigelioniene, Giedre ; Geiberger, Stefan ; Horemuzova, Eva ; Moström, Eva ; Jäntti, Nina ; Neumeyer, Lo ; Åström, Eva ; Nordenskjöld, Magnus ; Nordgren, Ann ; Mäkitie, Outi

American journal of medical genetics. Part A, 2014-07, Vol.164 (7), p.1635-1641 [Peer Reviewed Journal]

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5
AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies
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AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies

Meyer, Steffen ; Woodward, Martin ; Hertel, Christina ; Vlaicu, Philip ; Haque, Yasmin ; Kärner, Jaanika ; Macagno, Annalisa ; Onuoha, Shimobi C ; Fishman, Dmytro ; Peterson, Hedi ; Metsküla, Kaja ; Uibo, Raivo ; Jäntti, Kirsi ; Hokynar, Kati ; Wolff, Anette S.B ; Meloni, Antonella ; Kluger, Nicolas ; Husebye, Eystein S ; Podkrajsek, Katarina Trebusak ; Battelino, Tadej ; Bratanic, Nina ; Peet, Aleksandr ; Krohn, Kai ; Ranki, Annamari ; Peterson, Pärt ; Kisand, Kai ; Hayday, Adrian

Cell (Cambridge), 2016-07-28, Vol.166 (3), p.582-595 [Peer Reviewed Journal]

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6
Fluidity and flexibility of "belonging": Uses of the concept in contemporary research
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Fluidity and flexibility of "belonging": Uses of the concept in contemporary research

Tuuli Lähdesmäki ; Tuija Saresma ; Kaisa Hiltunen ; Saara Jäntti ; Nina Sääskilahti ; Antti Vallius ; Kaisa Ahvenjärvi

Acta sociologica, 2016-08-01, Vol.59 (3), p.233-247 [Peer Reviewed Journal]

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7
Anchoring Belonging Through Material Practices in Participatory Arts-Based Research
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Anchoring Belonging Through Material Practices in Participatory Arts-Based Research

Kaisa Elisabet Hiltunen ; Nina Elina Sääskilahti ; Antti Samuli Vallius ; Sari Hannele Elisabet Pöyhönen ; Saara Johanna Jäntti ; Tuija Anna Marjatta Saresma

Forum, qualitative social research, 2020-05-01, Vol.21 (2) [Peer Reviewed Journal]

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8
Eureca one⿿27 nations, one europe, one registry
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Eureca one⿿27 nations, one europe, one registry

Gräsner, Jan-Thorsten ; Lefering, Rolf ; Koster, Rudolph W ; Masterson, Siobhán ; Böttiger, Bernd W ; Herlitz, Johan ; Wnent, Jan ; Tjelmeland, Ingvild B.M ; Ortiz, Fernando Rosell ; Maurer, Holger ; Baubin, Michael ; Mols, Pierre ; HadžibegoviĿ, Irzal ; Ioannides, Marios ; Škulec, Roman ; Wissenberg, Mads ; Salo, Ari ; Hubert, Hervé ; Nikolaou, Nikolaos I ; Lóczi, Gerda ; Svavarsdóttir, Hildigunnur ; Semeraro, Federico ; Wright, Peter J ; Clarens, Carlo ; Pijls, Ruud ; Cebula, Grzegorz ; Correia, Vitor Gouveia ; Cimpoesu, Diana ; Raffay, Violetta ; Trenkler, Stefan ; Markota, Andrej ; Strömsöe, Anneli ; Burkart, Roman ; Perkins, Gavin D ; Bossaert, Leo L ; Kaufmann, Marc ; Thaler, Markus ; Maier, Martin ; Prause, Gerhard ; Trimmel, Helmut ; de Longueville, Diane ; Preseau, Thierry ; Biarent, Dominique ; Melot, Christian ; Mpotos, Nicolas ; Monsieurs, Koen ; Van de Voorde, Patrick ; Vanhove, Marie ; Lievens, Pascale ; Faniel, Mathias ; Keleuva, Slobodanka ; Lazarevic, Milan ; Ujevic, Radmila Majhen ; Devcic, Mato ; Bardak, Branka ; Barisic, Fabijan ; Anticevic, Silvija Hunyadi ; Georgiou, Marios ; Truhláſ, Anatolij ; Knor, Jiſí ; Smržová, Eva ; Sviták, Roman ; Šín, Robin ; Mokrejš, Petr ; Lippert, Freddy K ; Hallikainen, Juhana ; Hoikka, Marko ; Iirola, Timo ; Jama, Timo ; Jäntti, Helena ; Jokisalo, Raimo ; Jousi, Milla ; Kirves, Hetti ; Kuisma, Markku ; Laine, Jukka ; Länkimäki, Sami ; Loikas, Petri ; Lund, Vesa ; Määttä, Teuvo ; Nal, Heini ; Niemelä, Heimo ; Portaankorva, Petra ; Pylkkänen, Marko ; Sainio, Marko ; Setälä, Piritta ; Tervo, Jerry ; Väyrynen, Taneli ; Murgue, Davy ; Champenois, Anne ; Fournier, Marc ; Meyran, Daniel ; Tabary, Romain ; Avondo, Aurélie ; Gelin, Gelin ; Simonnet, Bruno ; Joly, Marc ; Megy-Michoux, Isabelle ; Paringaux, Xavier ; Duffait, Yves ; Vial, Michael ; ...

Resuscitation, 2016-08-01 [Peer Reviewed Journal]

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9
The Sec1/Munc18 Protein Groove Plays a Conserved Role in Interaction with Sec9p/SNAP‐25
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The Sec1/Munc18 Protein Groove Plays a Conserved Role in Interaction with Sec9p/SNAP‐25

Weber‐Boyvat, Marion ; Chernov, Konstantin G ; Aro, Nina ; Wohlfahrt, Gerd ; Olkkonen, Vesa M ; Jäntti, Jussi

Traffic (Copenhagen, Denmark), 2016-02, Vol.17 (2), p.131-153

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10
Income Inequality and Income Mobility in the Scandinavian Countries Compared to the United States
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Income Inequality and Income Mobility in the Scandinavian Countries Compared to the United States

Aaberge, Rolf ; Björklund, Anders ; Jäntti, Markus ; Palme, Mårten ; Pedersen, Peder J ; Smith, Nina ; Wennemo, Tom

The Review of income and wealth, 2002-12, Vol.48 (4), p.443-469 [Peer Reviewed Journal]

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