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[Re: Special outpatient clinic for skeletal dysplasias]. [electronic resource] by
- Rustad, Cecilie
- Bjørndalen, Hilde
- Myhre, Anne Grethe
- Heier, Cathrine Alsaker
- Horn, Joachim
- Knaus, Andreas
- Hvid, Ivan
- Merckoll, Else
- Tveiterås, Målfrid
- Westvik, Jostein
Producer: 20150723
In:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke vol. 135
Availability: No items available.
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11.
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STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone. [electronic resource] by
- Gamage, Thilini H
- Lengle, Emma
- Gunnes, Gjermund
- Pullisaar, Helen
- Holmgren, Asbjørn
- Reseland, Janne E
- Merckoll, Else
- Corti, Stefania
- Mizobuchi, Masahiro
- Morales, Raul J
- Tsiokas, Leonidas
- Tjønnfjord, Geir E
- Lacruz, Rodrigo S
- Lyngstadaas, Staale P
- Misceo, Doriana
- Frengen, Eirik
Producer: 20210601
In:
Cell calcium vol. 85
Availability: No items available.
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12.
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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. [electronic resource] by
- Barøy, Tuva
- Koster, Janet
- Strømme, Petter
- Ebberink, Merel S
- Misceo, Doriana
- Ferdinandusse, Sacha
- Holmgren, Asbjørn
- Hughes, Timothy
- Merckoll, Else
- Westvik, Jostein
- Woldseth, Berit
- Walter, John
- Wood, Nick
- Tvedt, Bjørn
- Stadskleiv, Kristine
- Wanders, Ronald J A
- Waterham, Hans R
- Frengen, Eirik
Producer: 20160712
In:
Human molecular genetics vol. 24
Availability: No items available.
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13.
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. [electronic resource] by
- Wang, Zheng
- Iida, Aritoshi
- Miyake, Noriko
- Nishiguchi, Koji M
- Fujita, Kosuke
- Nakazawa, Toru
- Alswaid, Abdulrahman
- Albalwi, Mohammed A
- Kim, Ok-Hwa
- Cho, Tae-Joon
- Lim, Gye-Yeon
- Isidor, Bertrand
- David, Albert
- Rustad, Cecilie F
- Merckoll, Else
- Westvik, Jostein
- Stattin, Eva-Lena
- Grigelioniene, Giedre
- Kou, Ikuyo
- Nakajima, Masahiro
- Ohashi, Hirohumi
- Smithson, Sarah
- Matsumoto, Naomichi
- Nishimura, Gen
- Ikegawa, Shiro
Producer: 20160801
In:
PloS one vol. 11
Availability: No items available.
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14.
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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. [electronic resource] by
- Bownass, Lucy
- Abbs, Stephen
- Armstrong, Ruth
- Baujat, Genevieve
- Behzadi, Gry
- Berentsen, Ragnhild Drage
- Burren, Christine
- Calder, Alistair
- Cormier-Daire, Valérie
- Newbury-Ecob, Ruth
- Foulds, Nicola
- Juliusson, Petur B
- Kant, Sarina G
- Lefroy, Henrietta
- Mehta, Sarju G
- Merckoll, Else
- Michot, Caroline
- Monsell, Fergal
- Offiah, Amaka C
- Richards, Allan
- Rosendahl, Karen
- Rustad, Cecilie F
- Shears, Deborah
- Tveten, Kristian
- Wellesley, Diana
- Wordsworth, Paul
- Smithson, Sarah
Producer: 20200803
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
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15.
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. [electronic resource] by
- Stray-Pedersen, Asbjørg
- Backe, Paul H
- Sorte, Hanne S
- Mørkrid, Lars
- Chokshi, Niti Y
- Erichsen, Hans Christian
- Gambin, Tomasz
- Elgstøen, Katja B P
- Bjørås, Magnar
- Wlodarski, Marcin W
- Krüger, Marcus
- Jhangiani, Shalini N
- Muzny, Donna M
- Patel, Ankita
- Raymond, Kimiyo M
- Sasa, Ghadir S
- Krance, Robert A
- Martinez, Caridad A
- Abraham, Shirley M
- Speckmann, Carsten
- Ehl, Stephan
- Hall, Patricia
- Forbes, Lisa R
- Merckoll, Else
- Westvik, Jostein
- Nishimura, Gen
- Rustad, Cecilie F
- Abrahamsen, Tore G
- Rønnestad, Arild
- Osnes, Liv T
- Egeland, Torstein
- Rødningen, Olaug K
- Beck, Christine R
- Boerwinkle, Eric A
- Gibbs, Richard A
- Lupski, James R
- Orange, Jordan S
- Lausch, Ekkehart
- Hanson, I Celine
Producer: 20140827
In:
American journal of human genetics vol. 95
Availability: No items available.
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