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Results: 1-19 |
Results: 19
THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: BECKER JA VLACH J RABEN N NAGARAJU K ADAMS EM HERMANS MM REUSER AJJ BROOKS SS TIFFT CJ HIRSCHHORN R HUIE ML NICOLINO M PLOTZ PH
Citation: Ja. Becker et al., THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, American journal of human genetics, 62(4), 1998, pp. 991-994
MOLECULAR SCREENING OF BATTEN-DISEASE - IDENTIFICATION OF A MISSENSE MUTATION (E295K) IN THE CLN3 GENE
Authors: ZHONG N WISNIEWSKI KE KACZMARSKI AL JU W XU WM XU WW MCLENDON L LIU B KACZMARSKI W BROOKS SS BROWN WT
Citation: N. Zhong et al., MOLECULAR SCREENING OF BATTEN-DISEASE - IDENTIFICATION OF A MISSENSE MUTATION (E295K) IN THE CLN3 GENE, Human genetics, 102(1), 1998, pp. 57-62
NORMAL ADAPTIVE FUNCTION WITH LEARNING-DISABILITY IN DUPLICATION 8P INCLUDING BAND P22
Authors: BROOKS SS GENOVESE M GU H DUNCAN CJ SHANSKE A JENKINS EC
Citation: Ss. Brooks et al., NORMAL ADAPTIVE FUNCTION WITH LEARNING-DISABILITY IN DUPLICATION 8P INCLUDING BAND P22, American journal of medical genetics, 78(2), 1998, pp. 114-117
2 COMMON MUTATIONS IN THE CLN2 GENE UNDERLIE LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: ZHONG N WISNIEWSKI KE HARTIKAINEN J JU W MOROZIEWICZ DN MCLENDON L BROOKS SS BROWN WT
Citation: N. Zhong et al., 2 COMMON MUTATIONS IN THE CLN2 GENE UNDERLIE LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, Clinical genetics, 54(3), 1998, pp. 234-238
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/
Authors: HUIE ML TSUJINO S BROOKS SS ENGEL A ELIAS E BONTHRON DT BESSLEY C SHANSKE S DIMAURO S GOTO YI HIRSCHHORN R
Citation: Ml. Huie et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/, Biochemical and biophysical research communications, 244(3), 1998, pp. 921-927
A COMMON MUTATION SITE IN THE BETA-GALACTOSIDASE GENE ORIGINATES IN PUERTO-RICO
Authors: CHIU NC QIAN WH SHANSKE AL BROOKS SS BOUSTANY RM
Citation: Nc. Chiu et al., A COMMON MUTATION SITE IN THE BETA-GALACTOSIDASE GENE ORIGINATES IN PUERTO-RICO, Pediatric neurology, 14(1), 1996, pp. 53-56
CLINICOPATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF ATYPICAL CLN3 CASES
Authors: WISNIEWSKI KE KIDA E ZHONG N KACZMARSKI W LACH A CONNELL F BROOKS SS BROWN WT
Citation: Ke. Wisniewski et al., CLINICOPATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF ATYPICAL CLN3 CASES, Annals of neurology, 40(2), 1996, pp. 170-170
OSTEOGLOPHONIC DYSPLASIA - REVIEW AND FURTHER DELINEATION OF THE SYNDROME
Authors: BROOKS SS KASSNER G QAZI Q KEOGH MJ GORLIN RJ
Citation: Ss. Brooks et al., OSTEOGLOPHONIC DYSPLASIA - REVIEW AND FURTHER DELINEATION OF THE SYNDROME, American journal of medical genetics, 66(2), 1996, pp. 154-162
INCLUDING FAMILY HISTORY LEADS TO OVER-ESTIMATION OF PRIOR RISK IN MSAFP ASSESSMENT
Authors: SAVONA KL BERLINER JL BROOKS SS
Citation: Kl. Savona et al., INCLUDING FAMILY HISTORY LEADS TO OVER-ESTIMATION OF PRIOR RISK IN MSAFP ASSESSMENT, American journal of medical genetics, 61(2), 1996, pp. 195-195
ABNORMAL ACID-PHOSPHATASES IN NEURONAL CEROID-LIPOFUSCINOSES
Authors: KHAN KMF BROOKS SS PULLARKAT RK
Citation: Kmf. Khan et al., ABNORMAL ACID-PHOSPHATASES IN NEURONAL CEROID-LIPOFUSCINOSES, American journal of medical genetics, 57(2), 1995, pp. 285-289
THEOPHYLLINE UP-REGULATION OF ERYTHROPOIETIN IN PRETERM INFANTS
Authors: BROOKS SS SOSA R WAYNE A NELSON RM
Citation: Ss. Brooks et al., THEOPHYLLINE UP-REGULATION OF ERYTHROPOIETIN IN PRETERM INFANTS, Pediatric research, 37(4), 1995, pp. 279-279
CENTRAL VASCULAR CATHETERS - IMPACT ON NOSOCOMIAL INFECTIONS IN NEONATES
Authors: BROOKS SS",JORGERAYON,"EMMANUEL P STROMQUIST CI NELSON RM
Citation: P. Brooks Ss",jorgerayon,"emmanuel et al., CENTRAL VASCULAR CATHETERS - IMPACT ON NOSOCOMIAL INFECTIONS IN NEONATES, Pediatric research, 37(4), 1995, pp. 289-289
SURFACTANT PROTEIN-B DEFICIENCY, AN INCREASINGLY RECOGNIZED CAUSE OF RESPIRATORY-FAILURE IN WEST CENTRAL FLORIDA
Authors: VALENCIA PA BROOKS SS OJEDA F STROMQUIST C TORRES B
Citation: Pa. Valencia et al., SURFACTANT PROTEIN-B DEFICIENCY, AN INCREASINGLY RECOGNIZED CAUSE OF RESPIRATORY-FAILURE IN WEST CENTRAL FLORIDA, Pediatric research, 37(4), 1995, pp. 354-354
DISTINCT PHYSIOLOGICAL FINGERPRINT OBSERVED IN 2 MODELS OF INDUCED CARDIAC-HYPERTROPHY
Authors: BROOKS SS CHONG HH BALKE CW LEDERER WJ ROGERS TB
Citation: Ss. Brooks et al., DISTINCT PHYSIOLOGICAL FINGERPRINT OBSERVED IN 2 MODELS OF INDUCED CARDIAC-HYPERTROPHY, Circulation, 92(8), 1995, pp. 2885-2885
A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII)
Authors: HUIE ML CHEN AS BROOKS SS GRIX A HIRSCHHORN R
Citation: Ml. Huie et al., A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII), Human molecular genetics, 3(7), 1994, pp. 1081-1087
NEW X-LINKED MENTAL-RETARDATION (XLMR) SYNDROME WITH DISTINCT FACIAL APPEARANCE AND GROWTH-RETARDATION
Authors: BROOKS SS WISNIEWSKI K BROWN WT
Citation: Ss. Brooks et al., NEW X-LINKED MENTAL-RETARDATION (XLMR) SYNDROME WITH DISTINCT FACIAL APPEARANCE AND GROWTH-RETARDATION, American journal of medical genetics, 51(4), 1994, pp. 586-590
RAPID FRAGILE-X CARRIER SCREENING AND PRENATAL-DIAGNOSIS USING A NONRADIOACTIVE PCR TEST (VOL 270, PG 1569, 1993)
Authors: BROWN WT HOUCK GE JEZIOROWSKA A LEVINSON FN DING X DOBKIN C ZHONG N HENDERSON J BROOKS SS JENKINS EC
Citation: Wt. Brown et al., RAPID FRAGILE-X CARRIER SCREENING AND PRENATAL-DIAGNOSIS USING A NONRADIOACTIVE PCR TEST (VOL 270, PG 1569, 1993), JAMA, the journal of the American Medical Association, 271(1), 1994, pp. 28-28
RAPID FRAGILE-X CARRIER SCREENING AND PRENATAL-DIAGNOSIS USING A NONRADIOACTIVE PCR TEST
Authors: BROWN WT HOUCK GE JEZIOROWSKA A LEVINSON FN DING XH DOBKIN C ZHONG N HENDERSON J BROOKS SS JENKINS EC
Citation: Wt. Brown et al., RAPID FRAGILE-X CARRIER SCREENING AND PRENATAL-DIAGNOSIS USING A NONRADIOACTIVE PCR TEST, JAMA, the journal of the American Medical Association, 270(13), 1993, pp. 1569-1575
A NEW X-LINKED MENTAL-RETARDATION (XLMR) SYNDROME WITH DISTINCTIVE FACIES, GROWTH AND MENTAL-RETARDATION
Authors: BROOKS SS WISNIEWSKI K BROWN WT
Citation: Ss. Brooks et al., A NEW X-LINKED MENTAL-RETARDATION (XLMR) SYNDROME WITH DISTINCTIVE FACIES, GROWTH AND MENTAL-RETARDATION, American journal of human genetics, 53(3), 1993, pp. 508-508
Risultati: 1-19 |