Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
Abidi, F E, Holloway, L, Moore, C A, Weaver, D D, Simensen, R J, Stevenson, R E, Rogers, R C, Schwartz, C E
Published in Journal of medical genetics (01.12.2008)
Published in Journal of medical genetics (01.12.2008)
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Journal Article
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal
Marco, E J, Abidi, F E, Bristow, J, Dean, W B, Cotter, P, Jeremy, R J, Schwartz, C E, Sherr, E H
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Journal Article
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
Abidi, F E, Holinski-Feder, E, Rittinger, O, Kooy, F, Lubs, H A, Stevenson, R E, Schwartz, C E
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Journal Article
Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel
Sossey-Alaoui, Khalid, Lyon, Jenifer A., Jones, Latonya, Abidi, Fatima E., Hartung, Andrew J., Hane, Bernhard, Schwartz, Charles E., Stevenson, Roger E., Srivastava, Anand K.
Published in Genomics (San Diego, Calif.) (15.09.1999)
Published in Genomics (San Diego, Calif.) (15.09.1999)
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Journal Article
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
Lubs, H, Abidi, F E, Echeverri, R, Holloway, L, Meindl, A, Stevenson, R E, Schwartz, C E
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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Journal Article
1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones
Palmieri, Giuseppe, Romano, Giovanna, Casamassimi, Amelia, D'Urso, Michele, Little, Randall D., Abidi, Fatima E., Schlessinger, David, Lagerström, Maria, Malmgren, Helena, Steen-Bondeson, Marie-Louise, Pettersson, Ulf, Landegren, Ulf
Published in Genomics (San Diego, Calif.) (01.06.1993)
Published in Genomics (San Diego, Calif.) (01.06.1993)
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Journal Article
Lectin-binding assay by polyethylene glycol 8000
Abidi, Fatima E., Bishayee, Subal, Bachhawat, Bimal K., Bhadra, Ranjan
Published in Analytical biochemistry (01.11.1987)
Published in Analytical biochemistry (01.11.1987)
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Journal Article
Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells
D'Urso, Michele, Zucchi, Ileana, Ciccodicola, Alfredo, Palmieri, Giuseppe, Abidi, Fatima E., Schlessinger, David
Published in Genomics (San Diego, Calif.) (01.08.1990)
Published in Genomics (San Diego, Calif.) (01.08.1990)
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Journal Article
Fluorescence anisotropy of IAEDANS-labelled L7/L12 attached to rRNAs and ribosomes
Dash, D, Abidi, F E, Burma, D P
Published in Indian journal of biochemistry & biophysics (01.06.1988)
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Published in Indian journal of biochemistry & biophysics (01.06.1988)
Journal Article
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
Ramser, Juliane, Abidi, Fatima E., Burckle, Celine A., Lenski, Claus, Toriello, Helga, Wen, Gaiping, Lubs, Herbert A., Engert, Stefanie, Stevenson, Roger E., Meindl, Alfons, Schwartz, Charles E., Nguyen, Genevieve
Published in Human molecular genetics (15.04.2005)
Published in Human molecular genetics (15.04.2005)
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Journal Article
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
Abidi, Fatima E, Cardoso, Carlos, Lossi, Anne-Marie, Lowry, Robert Brian, Depetris, Danielle, Mattéi, Marie-Geneviève, Lubs, Herbert A, Stevenson, Roger E, Fontes, Michel, Chudley, Albert E, Schwartz, Charles E
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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Journal Article
Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca Entry Channel
Sossey-Alaoui, K, Lyon, JA, Jones, L, Abidi, F E, Hartung, A J, Hane, B, Schwartz, CE, Stevenson, R E, Srivastava, A K
Published in Genomics (San Diego, Calif.) (15.09.1999)
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Published in Genomics (San Diego, Calif.) (15.09.1999)
Journal Article