Results
|
6441.
|
|
|
6442.
|
Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. [electronic resource] by
- Weise, A
- Starke, H
- Heller, A
- Tönnies, H
- Volleth, M
- Stumm, M
- Gabriele, S
- Nietzel, A
- Claussen, U
- Liehr, T
Producer: 20020708
In:
Journal of medical genetics vol. 39
Availability: No items available.
|
|
6443.
|
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. [electronic resource] by
- Winter, Jennifer
- Lehmann, Tanja
- Suckow, Vanessa
- Kijas, Zofia
- Kulozik, Andreas
- Kalscheuer, Vera
- Hamel, Ben
- Devriendt, Koen
- Opitz, John
- Lenzner, Steffen
- Ropers, Hans-Hilger
- Schweiger, Susann
Producer: 20030417
In:
Human genetics vol. 112
Availability: No items available.
|
|
6444.
|
|
|
6445.
|
|
|
6446.
|
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. [electronic resource] by
- Dent, K M
- Dunn, D M
- von Niederhausern, A C
- Aoyagi, A T
- Kerr, L
- Bromberg, M B
- Hart, K J
- Tuohy, T
- White, S
- den Dunnen, J T
- Weiss, R B
- Flanigan, K M
Producer: 20050509
In:
American journal of medical genetics. Part A vol. 134
Availability: No items available.
|
|
6447.
|
|
|
6448.
|
|
|
6449.
|
|
|
6450.
|
|
|
6451.
|
|
|
6452.
|
|
|
6453.
|
Autism, language delay and mental retardation in a patient with 7q11 duplication. [electronic resource] by
- Depienne, C
- Heron, D
- Betancur, C
- Benyahia, B
- Trouillard, O
- Bouteiller, D
- Verloes, A
- LeGuern, E
- Leboyer, M
- Brice, A
Producer: 20080306
In:
Journal of medical genetics vol. 44
Availability: No items available.
|
|
6454.
|
|
|
6455.
|
|
|
6456.
|
Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events. [electronic resource] by
- Gaedigk, A
- Ndjountché, L
- Divakaran, K
- Dianne Bradford, L
- Zineh, I
- Oberlander, T F
- Brousseau, D C
- McCarver, D G
- Johnson, J A
- Alander, S W
- Wayne Riggs, K
- Steven Leeder, J
Producer: 20070423
In:
Clinical pharmacology and therapeutics vol. 81
Availability: No items available.
|
|
6457.
|
|
|
6458.
|
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. [electronic resource] by
- Staník, Juraj
- Lethby, Mark
- Flanagan, Sarah E
- Gasperíková, Daniela
- Milosovicová, Beata
- Lever, Margaret
- Bullman, Hilary
- Zubcevic, Lejla
- Hattersley, Andrew T
- Ellard, Sian
- Ashcroft, Frances M
- Klimes, Iwar
Producer: 20081118
In:
Diabetes care vol. 31
Availability: No items available.
|
|
6459.
|
|
|
6460.
|
|