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Results: 1-14 |
Results: 14
FACL4, A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4, IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS, AND MENTAL-RETARDATION
Authors: PICCINI M VITELLI F BRUTTINI M POBER BR JONSSON JJ VILLANOVA M ZOLLO M BORSANI G BALLABIO A RENIERI A
Citation: M. Piccini et al., FACL4, A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4, IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS, AND MENTAL-RETARDATION, Genomics, 47(3), 1998, pp. 350-358
FAMILIAL DUP(5)(Q15Q21) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES
Authors: LI SY GIBSON LH GOMEZ K POBER BR YANGFENG TL
Citation: Sy. Li et al., FAMILIAL DUP(5)(Q15Q21) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES, American journal of medical genetics, 75(1), 1998, pp. 75-77
ALPORT SYNDROME, MENTAL-RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS - A NEW X-LINKED CONTIGUOUS GENE DELETION SYNDROME
Authors: JONSSON JJ RENIERI A GALLAGHER PG KASHTAN CE CHERNISKE EM BRUTTINI M PICCINI M VITELLI F BALLABIO A POBER BR
Citation: Jj. Jonsson et al., ALPORT SYNDROME, MENTAL-RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS - A NEW X-LINKED CONTIGUOUS GENE DELETION SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 273-278
A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4 (LACS4), IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS AND MENTAL-RETARDATION
Authors: RENIERI A PICCINI M VITELLI F BRUTTINI M POBER BR JONSSON JJ ZOLLO M BORSANI G BALLABIO A
Citation: A. Renieri et al., A NEW GENE ENCODING LONG-CHAIN ACYL-COA SYNTHETASE-4 (LACS4), IS DELETED IN A FAMILY WITH ALPORT-SYNDROME, ELLIPTOCYTOSIS AND MENTAL-RETARDATION, American journal of human genetics, 61(4), 1997, pp. 2019-2019
WILLIAMS-SYNDROME - AN OVERVIEW OF MEDICAL, COGNITIVE, AND BEHAVIORALFEATURES
Authors: POBER BR DYKENS EM
Citation: Br. Pober et Em. Dykens, WILLIAMS-SYNDROME - AN OVERVIEW OF MEDICAL, COGNITIVE, AND BEHAVIORALFEATURES, Child and adolescent psychiatric clinics of North America, 5(4), 1996, pp. 929
NEUROLOGIC FINDINGS IN CHILDREN AND ADULTS WITH WILLIAMS-SYNDROME
Authors: CHAPMAN CA DUPLESSIS A POBER BR
Citation: Ca. Chapman et al., NEUROLOGIC FINDINGS IN CHILDREN AND ADULTS WITH WILLIAMS-SYNDROME, Journal of child neurology, 11(1), 1996, pp. 63-65
TYPE-III TRACHEAL AGENESIS WITH FAMILIAL TETRALOGY OF FALLOT AND ABSENT PULMONARY VALVE SYNDROME
Authors: HIRTARMON K POBER BR HOLMES LB
Citation: K. Hirtarmon et al., TYPE-III TRACHEAL AGENESIS WITH FAMILIAL TETRALOGY OF FALLOT AND ABSENT PULMONARY VALVE SYNDROME, American journal of medical genetics, 65(4), 1996, pp. 266-268
ASSOCIATION OF CHIARI-I MALFORMATION AND WILLIAMS-SYNDROME
Authors: POBER BR FILIANO JJ
Citation: Br. Pober et Jj. Filiano, ASSOCIATION OF CHIARI-I MALFORMATION AND WILLIAMS-SYNDROME, Pediatric neurology, 12(1), 1995, pp. 84-88
DELETION OF CHROMOSOME 2Q24-Q31 CAUSES CHARACTERISTIC DIGITAL ANOMALIES - CASE-REPORT AND REVIEW
Authors: BOLES RG POBER BR GIBSON LH WILLIS CR MCGRATH J ROBERTS DJ YANGFENG TL
Citation: Rg. Boles et al., DELETION OF CHROMOSOME 2Q24-Q31 CAUSES CHARACTERISTIC DIGITAL ANOMALIES - CASE-REPORT AND REVIEW, American journal of medical genetics, 55(2), 1995, pp. 155-160
ISCHEMIC STROKE AND INTRACRANIAL MULTIFOCAL CEREBRAL ARTERIOPATHY IN WILLIAMS-SYNDROME
Authors: SOPER R CHALOUPKA JC FAYAD PB GREALLY JM SHAYWITZ BA AWAD IA POBER BR
Citation: R. Soper et al., ISCHEMIC STROKE AND INTRACRANIAL MULTIFOCAL CEREBRAL ARTERIOPATHY IN WILLIAMS-SYNDROME, The Journal of pediatrics, 126(6), 1995, pp. 945-948
THE NEUROPATHOLOGY OF WILLIAMS-SYNDROME - REPORT OF A 35-YEAR-OLD MANWITH PRESENILE BETA A4 AMYLOID PLAQUES AND NEUROFIBRILLARY TANGLES/
Authors: GOLDEN JA NIELSEN GP POBER BR HYMAN BT
Citation: Ja. Golden et al., THE NEUROPATHOLOGY OF WILLIAMS-SYNDROME - REPORT OF A 35-YEAR-OLD MANWITH PRESENILE BETA A4 AMYLOID PLAQUES AND NEUROFIBRILLARY TANGLES/, Archives of neurology, 52(2), 1995, pp. 209-212
FAMILIAL AND DE-NOVO SUBTLE XP ABNORMALITIES ASSOCIATED WITH MADELUNGDEFORMITY
Authors: HSU TY GIBSON LH YEN PH CHAREST N POBER BR YANGFENG TL
Citation: Ty. Hsu et al., FAMILIAL AND DE-NOVO SUBTLE XP ABNORMALITIES ASSOCIATED WITH MADELUNGDEFORMITY, American journal of human genetics, 57(4), 1995, pp. 650-650
A FAMILIAL DUP(5)(Q15Q22) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES
Authors: LI SY GIBSON LH GOMEZ K POBER BR SPEER J STILLER R YANGFENG TL
Citation: Sy. Li et al., A FAMILIAL DUP(5)(Q15Q22) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES, American journal of human genetics, 57(4), 1995, pp. 1647-1647
RENAL FINDINGS IN 40 INDIVIDUALS WITH WILLIAMS SYNDROME
Authors: POBER BR LACRO RV RICE C MANDELL V TEELE RL
Citation: Br. Pober et al., RENAL FINDINGS IN 40 INDIVIDUALS WITH WILLIAMS SYNDROME, American journal of medical genetics, 46(3), 1993, pp. 271-274
Risultati: 1-14 |