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Results 1 - 10 of 23  for Great Falls College MSU

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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

Frisk, Sofia ; Taylan, Fulya ; Blaszczyk, Izabela ; Nennesmo, Inger ; Annerén, Göran ; Herm, Bettina ; Stattin, Eva‐Lena ; Zachariadis, Vasilios ; Lindstrand, Anna ; Tesi, Bianca ; Laurell, Tobias ; Nordgren, Ann

Clinical genetics, 2019-08, Vol.96 (2), p.118-125 [Peer Reviewed Journal]

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2
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
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A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

Laurell, Tobias ; VanderMeer, Julia E ; Wenger, Aaron M ; Grigelioniene, Giedre ; Nordenskjöld, Agneta ; Arner, Marianne ; Ekblom, Anna Gerber ; Bejerano, Gill ; Ahituv, Nadav ; Nordgren, Ann

Human mutation, 2012-07, Vol.33 (7), p.1063-1066 [Peer Reviewed Journal]

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3
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
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Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Frisk, Sofia ; Grandpeix‐Guyodo, Catherine ; Popovic Silwerfeldt, Karin ; Hjartarson, Helgi Thor ; Chatzianastassiou, Dimitris ; Magnusson, Irina ; Laurell, Tobias ; Nordgren, Ann

Clinical case reports, 2018-11, Vol.6 (11), p.2103-2110 [Peer Reviewed Journal]

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4
Molecular and clinical delineation of the 17q22 microdeletion phenotype
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Molecular and clinical delineation of the 17q22 microdeletion phenotype

Laurell, Tobias ; Lundin, Johanna ; Anderlid, Britt-Marie ; Gorski, Jerome L ; Grigelioniene, Giedre ; Knight, Samantha J L ; Krepischi, Ana C V ; Nordenskjöld, Agneta ; Price, Susan M ; Rosenberg, Carla ; Turnpenny, Peter D ; Vianna-Morgante, Angela M ; Nordgren, Ann

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1085-1092 [Peer Reviewed Journal]

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5
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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6
Handtransplantation snart verklighet i Sverige
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Handtransplantation snart verklighet i Sverige

Dahlin, Lars B ; Arner, Marianne ; Fredrikson, Per ; Laurell, Tobias ; Lindblom, Hans ; Sassu, Paolo ; Wadström, Jonas ; Wiberg, Mikael

Läkartidningen, 2017, Vol.114 (39), p.1578 [Peer Reviewed Journal]

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7
Hand transplantation in Sweden – preparations under way
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Hand transplantation in Sweden – preparations under way

Dahlin, Lars ; Arner, Marianne ; Fredrikson, Per ; Laurell, Tobias ; Paolo, Sassu ; Wadström, Jonas ; Wiberg, Mikael

Läkartidningen, 2017-09-25, Vol.114 [Peer Reviewed Journal]

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8
Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation
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Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation

Goodell, Parker B ; Bauer, Andrea S ; Oishi, Scott ; Arner, Marianne ; Laurell, Tobias ; Taylor, Sandra L ; James, Michelle A

Journal of bone and joint surgery. American volume, 2017-07-05, Vol.99 (13), p.1119-1128

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9
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
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Article
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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

Frisk, Sofia ; Taylan, Fulya ; Blaszczyk, Izabela ; Nennesmo, Inger ; Annerén, Göran ; Herm, Bettina ; Stattin, Evalena ; Zachariadis, Vasilios ; Lindstrand, Anna ; Tesi, Bianca ; Laurell, Tobias ; Nordgren, Ann 2019

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10
Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation
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Article
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Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation

Goodell, Parker B ; Bauer, Andrea S ; Oishi, Scott ; Arner, Marianne ; Laurell, Tobias ; Taylor, Sandra L ; James, Michelle A 2017

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Results 1 - 10 of 23  for Great Falls College MSU

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