Authors:
FURUKAWA Y
KISH SJ
BEBIN EM
JACOBSON RD
FRYBURG JS
WILSON WG
SHIMADZU M
HYLAND K
TRUGMAN JM
Citation: Y. Furukawa et al., DYSTONIA WITH MOTOR DELAY IN COMPOUND HETEROZYGOTES FOR GTP-CYCLOHYDROLASE-I GENE-MUTATIONS, Annals of neurology, 44(1), 1998, pp. 10-16
Citation: Js. Fryburg et al., ABNORMAL HEAD MRI IN A NEUROLOGICALLY NORMAL BOY WITH HYPOMELANOSIS OF ITO, American journal of medical genetics, 66(2), 1996, pp. 200-203
Citation: Js. Fryburg et Te. Kelly, CHONDRODYSPLASIA PUNCTATA, HUMERO-METACARPAL TYPE - A 2ND CASE, American journal of medical genetics, 64(3), 1996, pp. 493-496
Citation: Js. Fryburg et al., CHROMOSOME 22Q11.2 DELETION IN A BOY WITH OPITZ (G BBB) SYNDROME/, American journal of medical genetics, 62(3), 1996, pp. 274-275
Authors:
HYLAND K
TRUGMAN JM
ROSTRUFFNER E
FRYBURG JS
WILSON WG
GUNASEKERA RS
ARNOLD L
Citation: K. Hyland et al., ABNORMAL PHENYLALANINE METABOLISM IN DOPA-RESPONSIVE DYSTONIA - A POSSIBLE DIAGNOSTIC-TEST, Neurology, 46(2), 1996, pp. 22002-22002
Citation: Js. Fryburg et N. Sidhumalik, LONG-TERM FOLLOW-UP OF CUTANEOUS CHANGES IN SIBLINGS WITH MANDIBULOACRAL DYSPLASIA WHO WERE ORIGINALLY CONSIDERED TO HAVE HEREDITARY SCLEROSING POIKILODERMA, Journal of the American Academy of Dermatology, 33(5), 1995, pp. 900-902
Citation: V. Shashi et al., NEUROECTODERMAL (CHIME) SYNDROME - AN ADDITIONAL CASE WITH LONG-TERM FOLLOW-UP OF ALL REPORTED CASES, Journal of Medical Genetics, 32(6), 1995, pp. 465-469
Citation: V. Shashi et Js. Fryburg, VASCULAR RING LEADING TO TRACHEOESOPHAGEAL COMPRESSION IN A PATIENT WITH RUBINSTEIN-TAYBI SYNDROME, Clinical genetics, 48(6), 1995, pp. 324-327
Citation: Js. Fryburg et al., PERIPHERAL BIOPTERIN DEFECT IN DOPA-RESPONSIVE DYSTONIA DEMONSTRATED WITH A PHENYLALANINE LOAD TEST, American journal of human genetics, 57(4), 1995, pp. 1020-1020
Authors:
PARK WJ
THEDA C
MAESTRI NE
MEYERS GA
FRYBURG JS
DUFRESNE C
COHEN MM
JABS EW
Citation: Wj. Park et al., ANALYSIS OF PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME, American journal of human genetics, 57(2), 1995, pp. 321-328
Authors:
FRYBURG JS
PELEGANO JP
BENNETT MJ
BEBIN EM
Citation: Js. Fryburg et al., LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME, American journal of medical genetics, 52(1), 1994, pp. 97-102
Citation: Js. Fryburg et Ke. Greer, EPIDERMAL NEVI AND BULLOUS APLASIA-CUTIS-CONGENITA IN A NEONATE, Journal of Medical Genetics, 30(11), 1993, pp. 962-963