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1. Khumalo, NP; Joss, DV; Huson, SM; Burge, S
   Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting
   BRITISH JOURNAL OF DERMATOLOGY
   
   N.P. Khumalo et al., "Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting", BR J DERM, 144(2), 2001, pp. 369-371
2. Hassin-Baer, S; Bar-Shira, A; Gilad, S; Galanty, Y; Khosravi, R; Lossos, A; Giladi, N; Weitz, R; Ben-Zeev, B; Goldhammer, Y; Shiloh, Y
   Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia
   JOURNAL OF NEUROLOGY
   
   S. Hassin-Baer et al., "Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia", J NEUROL, 246(8), 1999, pp. 716-719
3. TOYOSHIMA M; HARA T; ZHANG HD; YAMAMOTO T; AKABOSHI S; NANBA E; OHNO K; HORI N; SATO K; TAKESHITA K
   ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY - NOVEL POINT MUTATIONS WITHIN AND ADJACENT TO THE PHOSPHATIDYLINOSITOL 3-KINASE-LIKE DOMAIN
   American journal of medical genetics
   
   M. Toyoshima et al., "ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY - NOVEL POINT MUTATIONS WITHIN AND ADJACENT TO THE PHOSPHATIDYLINOSITOL 3-KINASE-LIKE DOMAIN", American journal of medical genetics, 75(2), 1998, pp. 141-144
4. GILAD S; CHESSA L; KHOSRAVI R; RUSSELL P; GALANTY Y; PIANE M; GATTI RA; JORGENSEN TJ; SHILOH Y; BARSHIRA A
   GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS
   American journal of human genetics
   
   S. Gilad et al., "GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS", American journal of human genetics, 62(3), 1998, pp. 551-561
5. GILAD S; KHOSRAVI R; SHKEDY D; UZIEL T; ZIV Y; SAVITSKY K; ROTMAN G; SMITH S; CHESSA L; JORGENSEN TJ; HARNIK R; FRYDMAN M; SANAL O; PORTNOI S; GOLDWICZ Z; JASPERS NGJ; GATTI RA; LENOIR G; LAVIN MF; TATSUMI K; WEGNER RD; SHILOH Y; BARSHIRA A
   PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA
   Human molecular genetics
   
   S. Gilad et al., "PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA", Human molecular genetics, 5(4), 1996, pp. 433-439
6. DERKALOUSTIAN VM; KLEIJER W; BOOTH A; AUERBACH AD; MAZER B; ELLIOTT AM; ABISH S; USHER R; WATTERS G; VEKEMANS M; EYDOUX P
   POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME
   American journal of medical genetics
   
   V.M. Derkaloustian et al., "POSSIBLE NEW VARIANT OF NIJMEGEN BREAKAGE SYNDROME", American journal of medical genetics, 65(1), 1996, pp. 21-26
7. DEGRAAF AS; DEJONG G; KLEIJER WJ
   AN EARLY-ONSET RECESSIVE CEREBELLAR DISORDER WITH DISTAL AMYOTROPHY AND, IN 2 PATIENTS, GROSS MYOCLONIA - A PROBABLE ATAXIA-TELANGIECTASIA VARIANT
   Clinical neurology and neurosurgery
   
   A.S. Degraaf et al., "AN EARLY-ONSET RECESSIVE CEREBELLAR DISORDER WITH DISTAL AMYOTROPHY AND, IN 2 PATIENTS, GROSS MYOCLONIA - A PROBABLE ATAXIA-TELANGIECTASIA VARIANT", Clinical neurology and neurosurgery, 97(1), 1995, pp. 1-7
8. BUNDEY S
   CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA
   International journal of radiation biology
   
   S. Bundey, "CLINICAL AND GENETIC FEATURES OF ATAXIA-TELANGIECTASIA", International journal of radiation biology, 66(6), 1994, pp. 23-29
9. CHUNG EO; BODENSTEINER JB; NOORANI PA; SCHOCHET SS
   CEREBRAL WHITE-MATTER CHANGES SUGGESTING LEUKODYSTROPHY IN ATAXIA-TELANGIECTASIA
   Journal of child neurology
   
   E.O. Chung et al., "CEREBRAL WHITE-MATTER CHANGES SUGGESTING LEUKODYSTROPHY IN ATAXIA-TELANGIECTASIA", Journal of child neurology, 9(1), 1994, pp. 31-35
10. ZIV Y; FRYDMAN M; LANGE E; ZELNIK N; ROTMAN G; JULIER C; JASPERS NGJ; DAGAN Y; ABELIOVICZ D; DAR H; BOROCHOWITZ Z; LATHROP M; GATTI RA; SHILOH Y
    ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME
    Human genetics
    
    Y. Ziv et al., "ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME", Human genetics, 88(6), 1992, pp. 619-626