AAAAAA
Results:
1-21
|
Results: 21
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
Authors:
HYLAND K
FRYBURG JS
WILSON WG
BEBIN EM
ARNOLD LA
GUNASEKERA RS
JACOBSON RD
ROSTRUFFNER E
TRUGMAN JM
Citation: K. Hyland et al., ORAL PHENYLALANINE LOADING IN DOPA-RESPONSIVE DYSTONIA - A POSSIBLE DIAGNOSTIC-TEST, Neurology, 48(5), 1997, pp. 1290-1297
Authors:
FRYBURG JS
LIN KY
MATSUMOTO J
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
Authors:
FRYBURG JS
KELLY TE
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
Authors:
FRYBURG JS
LIN KY
GOLDEN WL
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
Authors:
FRYBURG JS
SIDHUMALIK N
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
Authors:
FRYBURG JS
HWANG V
LIN KY
Citation: Js. Fryburg et al., RECURRENT LAMBDOID SYNOSTOSIS WITHIN 2 FAMILIES, American journal of medical genetics, 58(3), 1995, pp. 262-266
Authors:
BEBIN EM
FRYBURG JS
TRUGMAN JM
Citation: Em. Bebin et al., DOPA-RESPONSIVE DYSTONIA (DRD) PRESENTING IN THE 1ST YEAR OF LIFE, Neurology, 45(4), 1995, pp. 184-184
NEUROECTODERMAL (CHIME) SYNDROME - AN ADDITIONAL CASE WITH LONG-TERM FOLLOW-UP OF ALL REPORTED CASES
Authors:
SHASHI V
ZUNICH J
KELLY TE
FRYBURG JS
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
Authors:
SHASHI V
FRYBURG JS
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
Authors:
THEDA C
PARK WJ
MAESTRI NE
MEYERS GA
FRYBURG JS
DUFRESNE C
COHEN MM
JABS EW
Citation: C. Theda et al., PHENOTYPIC FEATURES AND FGFR2 MUTATIONS IN APERT SYNDROME, American journal of human genetics, 57(4), 1995, pp. 96-96
Authors:
FRYBURG JS
TRUGMAN JM
WILSON WG
HYLAND K
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
Authors:
SHASHI V
GOLDEN WL
FRYBURG JS
Citation: V. Shashi et al., CHOANAL ATRESIA IN A PATIENT WITH THE DELETION (9P) SYNDROME, American journal of medical genetics, 49(1), 1994, pp. 88-90
Authors:
BEBIN EM
PELEGANO JP
FRYBURG JS
Citation: Em. Bebin et al., LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN BANNAYAN-RILEY-RUVALCABA SYNDROME (BRRS), Neurology, 44(4), 1994, pp. 10000198-10000198
Authors:
FRYBURG JS
Citation: Js. Fryburg, MOSAICISM IN CHORIONIC VILLUS SAMPLING, Obstetrics and gynecology clinics of North America, 20(3), 1993, pp. 523-532
Authors:
FRYBURG JS
DIMAIO MS
YANGFENG TL
MAHONEY MJ
Citation: Js. Fryburg et al., FOLLOW-UP OF PREGNANCIES COMPLICATED BY PLACENTAL MOSAICISM DIAGNOSEDBY CHORIONIC VILLUS SAMPLING, Prenatal diagnosis, 13(6), 1993, pp. 481-494
Authors:
FRYBURG JS
PERSING JA
LIN KY
Citation: Js. Fryburg et al., FRONTONASAL DYSPLASIA IN 2 SUCCESSIVE GENERATIONS, American journal of medical genetics, 46(6), 1993, pp. 712-714
Authors:
FRYBURG JS
GREER KE
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
Risultati:
1-21
|