2015 Year Book of Pediatrics. Ed. Cabana MD. (Elsevier; Philadelphia, PA)
Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study.
New molecular diagnostic tests for two congenital forms of anemia.
Fanconi anemia: genetic testing in Ashkenazi Jews.
Possible new variant of Nijmegen breakage syndrome.
Binding sites contribute unequally to the gating of mouse nicotinic alpha D200N acetylcholine receptors.
A locus for Fanconi anemia on 16q determined by homozygosity mapping.
Voltage dependence of mouse acetylcholine receptor gating: different charge movements in di-, mono- and unliganded receptors.
Inorganic, monovalent cations compete with agonists for the transmitter binding site of nicotinic acetylcholine receptors.
Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia.
Identification of a high affinity divalent cation binding site near the entrance of the NMDA receptor channel.
