Results
|
61.
|
Mild hypoglycemia and impairment of brain stem and cortical evoked potentials in healthy subjects. [electronic resource] by
- Jones, T W
- McCarthy, G
- Tamborlane, W V
- Caprio, S
- Roessler, E
- Kraemer, D
- Starick-Zych, K
- Allison, T
- Boulware, S D
- Sherwin, R S
Producer: 19910108
In:
Diabetes vol. 39
Availability: No items available.
|
|
62.
|
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. [electronic resource] by
- Gaudenz, K
- Roessler, E
- Quaderi, N
- Franco, B
- Feldman, G
- Gasser, D L
- Wittwer, B
- Horst, J
- Montini, E
- Opitz, J M
- Ballabio, A
- Muenke, M
Producer: 19981020
In:
American journal of human genetics vol. 63
Availability: No items available.
|
|
63.
|
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. [electronic resource] by
- Gripp, K W
- Wotton, D
- Edwards, M C
- Roessler, E
- Ades, L
- Meinecke, P
- Richieri-Costa, A
- Zackai, E H
- Massagué, J
- Muenke, M
- Elledge, S J
Producer: 20000629
In:
Nature genetics vol. 25
Availability: No items available.
|
|
64.
|
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. [electronic resource] by
- Solomon, B D
- Pineda-Alvarez, D E
- Hadley, D W
- Hansen, N F
- Kamat, A
- Donovan, F X
- Chandrasekharappa, S C
- Hong, S-K
- Roessler, E
- Mullikin, J C
Producer: 20130509
In:
Molecular syndromology vol. 4
Availability: No items available.
|
|
65.
|
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. [electronic resource] by
- Karkera, J D
- Lee, J S
- Roessler, E
- Banerjee-Basu, S
- Ouspenskaia, M V
- Mez, J
- Goldmuntz, E
- Bowers, P
- Towbin, J
- Belmont, J W
- Baxevanis, A D
- Schier, A F
- Muenke, M
Producer: 20071127
In:
American journal of human genetics vol. 81
Availability: No items available.
|
|
66.
|
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. [electronic resource] by
- Bamford, R N
- Roessler, E
- Burdine, R D
- Saplakoğlu, U
- dela Cruz, J
- Splitt, M
- Goodship, J A
- Towbin, J
- Bowers, P
- Ferrero, G B
- Marino, B
- Schier, A F
- Shen, M M
- Muenke, M
- Casey, B
Producer: 20001213
In:
Nature genetics vol. 26
Availability: No items available.
|
|
67.
|
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. [electronic resource] by
- Belloni, E
- Muenke, M
- Roessler, E
- Traverso, G
- Siegel-Bartelt, J
- Frumkin, A
- Mitchell, H F
- Donis-Keller, H
- Helms, C
- Hing, A V
- Heng, H H
- Koop, B
- Martindale, D
- Rommens, J M
- Tsui, L C
- Scherer, S W
Producer: 19961216
In:
Nature genetics vol. 14
Availability: No items available.
|
|
68.
|
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. [electronic resource] by
- Nanni, L
- Ming, J E
- Bocian, M
- Steinhaus, K
- Bianchi, D W
- Die-Smulders, C
- Giannotti, A
- Imaizumi, K
- Jones, K L
- Campo, M D
- Martin, R A
- Meinecke, P
- Pierpont, M E
- Robin, N H
- Young, I D
- Roessler, E
- Muenke, M
Producer: 20000124
In:
Human molecular genetics vol. 8
Availability: No items available.
|
|
69.
|
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. [electronic resource] by
- Vargas, F R
- Roessler, E
- Gaudenz, K
- Belloni, E
- Whitehead, A S
- Kirke, P N
- Mills, J L
- Hooper, G
- Stevenson, R E
- Cordeiro, I
- Correia, P
- Felix, T
- Gereige, R
- Cunningham, M L
- Canún, S
- Antonarakis, S E
- Strachan, T
- Tsui, L C
- Scherer, S W
- Muenke, M
Producer: 19980610
In:
Human genetics vol. 102
Availability: No items available.
|
|
70.
|
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. [electronic resource] by
- Keaton, A A
- Solomon, B D
- Kauvar, E F
- El-Jaick, K B
- Gropman, A L
- Zafer, Y
- Meck, J M
- Bale, S J
- Grange, D K
- Haddad, B R
- Gowans, G C
- Clegg, N J
- Delgado, M R
- Hahn, J S
- Pineda-Alvarez, D E
- Lacbawan, F
- Vélez, J I
- Roessler, E
- Muenke, M
Publication details: Molecular syndromology 2010
In:
Molecular syndromology vol. 1
Availability: No items available.
|
|
71.
|
Radioimmunotherapy of interleukin-2R alpha-expressing adult T-cell leukemia with Yttrium-90-labeled anti-Tac. [electronic resource] by
- Waldmann, T A
- White, J D
- Carrasquillo, J A
- Reynolds, J C
- Paik, C H
- Gansow, O A
- Brechbiel, M W
- Jaffe, E S
- Fleisher, T A
- Goldman, C K
- Top, L E
- Bamford, R
- Zaknoen, E
- Roessler, E
- Kasten-Sportes, C
- England, R
- Litou, H
- Johnson, J A
- Jackson-White, T
- Manns, A
- Hanchard, B
- Junghans, R P
- Nelson, D L
Producer: 19960111
In:
Blood vol. 86
Availability: No items available.
|
|
72.
|
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. [electronic resource] by
- Jain, M
- Vélez, J I
- Acosta, M T
- Palacio, L G
- Balog, J
- Roessler, E
- Pineda, D
- Londoño, A C
- Palacio, J D
- Arbelaez, A
- Lopera, F
- Elia, J
- Hakonarson, H
- Seitz, C
- Freitag, C M
- Palmason, H
- Meyer, J
- Romanos, M
- Walitza, S
- Hemminger, U
- Warnke, A
- Romanos, J
- Renner, T
- Jacob, C
- Lesch, K-P
- Swanson, J
- Castellanos, F X
- Bailey-Wilson, J E
- Arcos-Burgos, M
- Muenke, M
Producer: 20121113
In:
Molecular psychiatry vol. 17
Availability: No items available.
|
|
73.
|
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. [electronic resource] by
- Arcos-Burgos, M
- Jain, M
- Acosta, M T
- Shively, S
- Stanescu, H
- Wallis, D
- Domené, S
- Vélez, J I
- Karkera, J D
- Balog, J
- Berg, K
- Kleta, R
- Gahl, W A
- Roessler, E
- Long, R
- Lie, J
- Pineda, D
- Londoño, A C
- Palacio, J D
- Arbelaez, A
- Lopera, F
- Elia, J
- Hakonarson, H
- Johansson, S
- Knappskog, P M
- Haavik, J
- Ribases, M
- Cormand, B
- Bayes, M
- Casas, M
- Ramos-Quiroga, J A
- Hervas, A
- Maher, B S
- Faraone, S V
- Seitz, C
- Freitag, C M
- Palmason, H
- Meyer, J
- Romanos, M
- Walitza, S
- Hemminger, U
- Warnke, A
- Romanos, J
- Renner, T
- Jacob, C
- Lesch, K-P
- Swanson, J
- Vortmeyer, A
- Bailey-Wilson, J E
- Castellanos, F X
- Muenke, M
Producer: 20110301
In:
Molecular psychiatry vol. 15
Availability: No items available.
|
|
74.
|
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. [electronic resource] by
- Lacbawan, F
- Solomon, B D
- Roessler, E
- El-Jaick, K
- Domené, S
- Vélez, J I
- Zhou, N
- Hadley, D
- Balog, J Z
- Long, R
- Fryer, A
- Smith, W
- Omar, S
- McLean, S D
- Clarkson, K
- Lichty, A
- Clegg, N J
- Delgado, M R
- Levey, E
- Stashinko, E
- Potocki, L
- Vanallen, M I
- Clayton-Smith, J
- Donnai, D
- Bianchi, D W
- Juliusson, P B
- Njølstad, P R
- Brunner, H G
- Carey, J C
- Hehr, U
- Müsebeck, J
- Wieacker, P F
- Postra, A
- Hennekam, R C M
- van den Boogaard, M-J H
- van Haeringen, A
- Paulussen, A
- Herbergs, J
- Schrander-Stumpel, C T R M
- Janecke, A R
- Chitayat, D
- Hahn, J
- McDonald-McGinn, D M
- Zackai, E H
- Dobyns, W B
- Muenke, M
Producer: 20090804
In:
Journal of medical genetics vol. 46
Availability: No items available.
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