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Aminoglycoside-induced deafness during treatment of acute leukaemia. [electronic resource] by
- Bitner-Glindzicz, M
- Osei-Lah, V
- Colvin, I
- Sirimanna, T
- Lucas, D
- Mac Ardle, B
- Webb, D
- Shankar, A
- Kingston, J
- Jenkins, L
- Rahman, S
Producer: 20100511
In:
Archives of disease in childhood vol. 95
Availability: No items available.
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24.
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25.
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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. [electronic resource] by
- Tyson, J
- Tranebjaerg, L
- Bellman, S
- Wren, C
- Taylor, J F
- Bathen, J
- Aslaksen, B
- Sørland, S J
- Lund, O
- Malcolm, S
- Pembrey, M
- Bhattacharya, S
- Bitner-Glindzicz, M
Producer: 19971219
In:
Human molecular genetics vol. 6
Availability: No items available.
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26.
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Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. [electronic resource] by
- Hutchin, T
- Coy, N N
- Conlon, H
- Telford, E
- Bromelow, K
- Blaydon, D
- Taylor, G
- Coghill, E
- Brown, S
- Trembath, R
- Liu, X Z
- Bitner-Glindzicz, M
- Mueller, R
Producer: 20060615
In:
Clinical genetics vol. 68
Availability: No items available.
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27.
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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. [electronic resource] by
- Bitner-Glindzicz, M
- Turnpenny, P
- Höglund, P
- Kääriäinen, H
- Sankila, E M
- van der Maarel, S M
- de Kok, Y J
- Ropers, H H
- Cremers, F P
- Pembrey, M
Producer: 19951215
In:
Human molecular genetics vol. 4
Availability: No items available.
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28.
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X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. [electronic resource] by
- Huber, I
- Bitner-Glindzicz, M
- de Kok, Y J
- van der Maarel, S M
- Ishikawa-Brush, Y
- Monaco, A P
- Robinson, D
- Malcolm, S
- Pembrey, M E
- Brunner, H G
Producer: 19950105
In:
Human molecular genetics vol. 3
Availability: No items available.
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29.
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Haplotype analysis of the USH1D locus and genotype-phenotype correlations. [electronic resource] by
- Liu, X Z
- Blanton, S H
- Bitner-Glindzicz, M
- Pandya, A
- Landa, B
- MacArdle, B
- Rajput, K
- Bellman, S
- Webb, B T
- Ping, X
- Smith, R J
- Nance, W E
Producer: 20010927
In:
Clinical genetics vol. 60
Availability: No items available.
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30.
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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. [electronic resource] by
- Tyson, J
- Tranebjaerg, L
- McEntagart, M
- Larsen, L A
- Christiansen, M
- Whiteford, M L
- Bathen, J
- Aslaksen, B
- Sørland, S J
- Lund, O
- Pembrey, M E
- Malcolm, S
- Bitner-Glindzicz, M
Producer: 20010118
In:
Human genetics vol. 107
Availability: No items available.
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31.
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Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. [electronic resource] by
- Houseman, M J
- Ellis, L A
- Pagnamenta, A
- Di, W L
- Rickard, S
- Osborn, A H
- Dahl, H H
- Taylor, G R
- Bitner-Glindzicz, M
- Reardon, W
- Mueller, R F
- Kelsell, D P
Producer: 20010510
In:
Journal of medical genetics vol. 38
Availability: No items available.
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32.
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Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. [electronic resource] by
- Kelberman, D
- Tyson, J
- Chandler, D C
- McInerney, A M
- Slee, J
- Albert, D
- Aymat, A
- Botma, M
- Calvert, M
- Goldblatt, J
- Haan, E A
- Laing, N G
- Lim, J
- Malcolm, S
- Singer, S L
- Winter, R M
- Bitner-Glindzicz, M
Producer: 20020215
In:
Human genetics vol. 109
Availability: No items available.
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33.
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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. [electronic resource] by
- Abdelhak, S
- Kalatzis, V
- Heilig, R
- Compain, S
- Samson, D
- Vincent, C
- Weil, D
- Cruaud, C
- Sahly, I
- Leibovici, M
- Bitner-Glindzicz, M
- Francis, M
- Lacombe, D
- Vigneron, J
- Charachon, R
- Boven, K
- Bedbeder, P
- Van Regemorter, N
- Weissenbach, J
- Petit, C
Producer: 19970310
In:
Nature genetics vol. 15
Availability: No items available.
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34.
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Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. [electronic resource] by
- de Kok, Y J
- Vossenaar, E R
- Cremers, C W
- Dahl, N
- Laporte, J
- Hu, L J
- Lacombe, D
- Fischel-Ghodsian, N
- Friedman, R A
- Parnes, L S
- Thorpe, P
- Bitner-Glindzicz, M
- Pander, H J
- Heilbronner, H
- Graveline, J
- den Dunnen, J T
- Brunner, H G
- Ropers, H H
- Cremers, F P
Producer: 19970108
In:
Human molecular genetics vol. 5
Availability: No items available.
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35.
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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. [electronic resource] by
- Bitner-Glindzicz, M
- Lindley, K J
- Rutland, P
- Blaydon, D
- Smith, V V
- Milla, P J
- Hussain, K
- Furth-Lavi, J
- Cosgrove, K E
- Shepherd, R M
- Barnes, P D
- O'Brien, R E
- Farndon, P A
- Sowden, J
- Liu, X Z
- Scanlan, M J
- Malcolm, S
- Dunne, M J
- Aynsley-Green, A
- Glaser, B
Producer: 20001030
In:
Nature genetics vol. 26
Availability: No items available.
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36.
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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. [electronic resource] by
- Bork, J M
- Peters, L M
- Riazuddin, S
- Bernstein, S L
- Ahmed, Z M
- Ness, S L
- Polomeno, R
- Ramesh, A
- Schloss, M
- Srisailpathy, C R
- Wayne, S
- Bellman, S
- Desmukh, D
- Ahmed, Z
- Khan, S N
- Kaloustian, V M
- Li, X C
- Lalwani, A
- Riazuddin, S
- Bitner-Glindzicz, M
- Nance, W E
- Liu, X Z
- Wistow, G
- Smith, R J
- Griffith, A J
- Wilcox, E R
- Friedman, T B
- Morell, R J
Producer: 20010215
In:
American journal of human genetics vol. 68
Availability: No items available.
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