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Partial tetrasomy 14 associated with multiple malformations. [electronic resource] by
- Winberg, Johanna
- Lagerstedt Robinson, Kristina
- Naess, Karin
- Lesko, Nicole
- Wibom, Rolf
- Liedén, Agne
- Anderlid, Britt-Marie
- Graff, Caroline
- Nordenskjöld, Agneta
- Nordgren, Ann
- Gustavsson, Peter
Producer: 20160415
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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12.
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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. [electronic resource] by
- Kvarnung, Malin
- Taylan, Fulya
- Nilsson, Daniel
- Anderlid, Britt-Marie
- Malmgren, Helena
- Lagerstedt-Robinson, Kristina
- Holmberg, Eva
- Burstedt, Magnus
- Nordenskjöld, Magnus
- Nordgren, Ann
- Lundberg, Elisabeth S
Producer: 20191114
In:
Clinical genetics vol. 94
Availability: No items available.
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13.
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Chimerism resulting from parthenogenetic activation and dispermic fertilization. [electronic resource] by
- Winberg, Johanna
- Gustavsson, Peter
- Lagerstedt-Robinson, Kristina
- Blennow, Elisabeth
- Lundin, Johanna
- Iwarsson, Erik
- Nordenström, Anna
- Anderlid, Britt-Marie
- Bondeson, Marie-Louise
- Nordenskjöld, Agneta
- Nordgren, Ann
Producer: 20101215
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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14.
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Genetic anticipation in Swedish Lynch syndrome families. [electronic resource] by
- von Salomé, Jenny
- Boonstra, Philip S
- Karimi, Masoud
- Silander, Gustav
- Stenmark-Askmalm, Marie
- Gebre-Medhin, Samuel
- Aravidis, Christos
- Nilbert, Mef
- Lindblom, Annika
- Lagerstedt-Robinson, Kristina
Producer: 20171117
In:
PLoS genetics vol. 13
Availability: No items available.
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15.
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Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. [electronic resource] by
- von Salomé, Jenny
- Liu, Tao
- Keihäs, Markku
- Morak, Moni
- Holinski-Feder, Elke
- Berry, Ian R
- Moilanen, Jukka S
- Baert-Desurmont, Stéphanie
- Lindblom, Annika
- Lagerstedt-Robinson, Kristina
Producer: 20190305
In:
Familial cancer vol. 17
Availability: No items available.
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16.
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families. [electronic resource] by
- Karimi, Masoud
- von Salomé, Jenny
- Aravidis, Christos
- Silander, Gustav
- Askmalm, Marie Stenmark
- Henriksson, Isabelle
- Gebre-Medhin, Samuel
- Frödin, Jan-Erik
- Björck, Erik
- Lagerstedt-Robinson, Kristina
- Lindblom, Annika
- Tham, Emma
Publication details: Hereditary cancer in clinical practice 2018
In:
Hereditary cancer in clinical practice vol. 16
Availability: No items available.
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17.
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Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. [electronic resource] by
- Lagerstedt Robinson, Kristina
- Liu, Tao
- Vandrovcova, Jana
- Halvarsson, Britta
- Clendenning, Mark
- Frebourg, Thierry
- Papadopoulos, Nickolas
- Kinzler, Kenneth W
- Vogelstein, Bert
- Peltomäki, Päivi
- Kolodner, Richard D
- Nilbert, Mef
- Lindblom, Annika
Producer: 20070313
In:
Journal of the National Cancer Institute vol. 99
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18.
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Chorea, psychosis, acanthocytosis, and prolonged survival associated with [electronic resource] by
- Paucar, Martin
- Pajak, Aleksandra
- Freyer, Christoph
- Bergendal, Åsa
- Döry, Margit
- Laffita-Mesa, José Miguel
- Stranneheim, Henrik
- Lagerstedt-Robinson, Kristina
- Savitcheva, Irina
- Walker, Ruth H
- Wedell, Anna
- Wredenberg, Anna
- Svenningsson, Per
Producer: 20190826
In:
Neurology vol. 91
Availability: No items available.
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19.
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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. [electronic resource] by
- Tham, Emma
- Eklund, Erik A
- Hammarsjö, Anna
- Bengtson, Per
- Geiberger, Stefan
- Lagerstedt-Robinson, Kristina
- Malmgren, Helena
- Nilsson, Daniel
- Grigelionis, Gintautas
- Conner, Peter
- Lindgren, Peter
- Lindstrand, Anna
- Wedell, Anna
- Albåge, Margareta
- Zielinska, Katarzyna
- Nordgren, Ann
- Papadogiannakis, Nikos
- Nishimura, Gen
- Grigelioniene, Giedre
Producer: 20161007
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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20.
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Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. [electronic resource] by
- Lindstrand, Anna
- Grigelioniene, Giedre
- Nilsson, Daniel
- Pettersson, Maria
- Hofmeister, Wolfgang
- Anderlid, Britt-Marie
- Kant, Sarina G
- Ruivenkamp, Claudia A L
- Gustavsson, Peter
- Valta, Helena
- Geiberger, Stefan
- Topa, Alexandra
- Lagerstedt-Robinson, Kristina
- Taylan, Fulya
- Wincent, Josephine
- Laurell, Tobias
- Pekkinen, Minna
- Nordenskjöld, Magnus
- Mäkitie, Outi
- Nordgren, Ann
Producer: 20140808
In:
Journal of medical genetics vol. 51
Availability: No items available.
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