Results
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1001.
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1002.
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. [electronic resource] by
- Jalali, Ali
- Aldinger, Kimberly A
- Chary, Ajit
- McLone, David G
- Bowman, Robin M
- Le, Luan Cong
- Jardine, Phillip
- Newbury-Ecob, Ruth
- Mallick, Andrew
- Jafari, Nadereh
- Russell, Eric J
- Curran, John
- Nguyen, Pam
- Ouahchi, Karim
- Lee, Charles
- Dobyns, William B
- Millen, Kathleen J
- Pina-Neto, Joao M
- Kessler, John A
- Bassuk, Alexander G
Producer: 20080422
In:
Human genetics vol. 123
Availability: No items available.
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1003.
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1004.
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1005.
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1006.
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1007.
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1008.
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1009.
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1010.
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1011.
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1012.
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1013.
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Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. [electronic resource] by
- Delahaye, Andrée
- Khung-Savatovsky, Suonavy
- Aboura, Azzedine
- Guimiot, Fabien
- Drunat, Séverine
- Alessandri, Jean-Luc
- Gérard, Marion
- Bitoun, Pierre
- Boumendil, Julien
- Robin, Stéphanie
- Huel, Chan
- Guilherme, Romain
- Serero, Stéphane
- Gressens, Pierre
- Elion, Jacques
- Verloes, Alain
- Benzacken, Brigitte
- Delezoide, Anne-Lise
- Pipiras, Eva
Producer: 20130219
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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1014.
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1015.
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1016.
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1017.
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1018.
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. [electronic resource] by
- Gripp, Karen W
- Aldinger, Kimberly A
- Bennett, James T
- Baker, Laura
- Tusi, Jessica
- Powell-Hamilton, Nina
- Stabley, Deborah
- Sol-Church, Katia
- Timms, Andrew E
- Dobyns, William B
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 170
Availability: No items available.
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1019.
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1020.
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An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. [electronic resource] by
- Stayner, C
- Poole, C A
- McGlashan, S R
- Pilanthananond, M
- Brauning, R
- Markie, D
- Lett, B
- Slobbe, L
- Chae, A
- Johnstone, A C
- Jensen, C G
- McEwan, J C
- Dittmer, K
- Parker, K
- Wiles, A
- Blackburne, W
- Leichter, A
- Leask, M
- Pinnapureddy, A
- Jennings, M
- Horsfield, J A
- Walker, R J
- Eccles, M R
Producer: 20181211
In:
Scientific reports vol. 7
Availability: No items available.
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