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You searched for: Author/Creator Abidi, Fatima

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1. Analysis of X‐inactivation status in a Rett syndrome natural history study cohort. Issue 5 (23rd March 2022)

2. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Issue 3 (1st March 1999)

3. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. Issue 9 (1st September 2000)

4. Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome. Issue 12 (23rd August 2016)

5. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. Issue 4 (29th April 2016)

6. Sensitivity of mammalian equilibrative nucleoside transporters to NBMPR: Identification of an amino acid residue fundamental in sensitivity. (June 2000)