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Results: 1-18 |
Results: 18
GROWTH-HORMONE RECEPTOR MUTATIONS IN CHILDREN IDIOPATHIC SHORT STATURE
Authors: SANCHEZ JE PERERA E BAUMBACH L CLEVELAND WW
Citation: Je. Sanchez et al., GROWTH-HORMONE RECEPTOR MUTATIONS IN CHILDREN IDIOPATHIC SHORT STATURE, The Journal of clinical endocrinology and metabolism, 83(11), 1998, pp. 4079-4083
RESEARCH NEWS - MAKING THE PERFECT MISMATCH
Authors: BAUMBACH L
Citation: L. Baumbach, RESEARCH NEWS - MAKING THE PERFECT MISMATCH, Nature biotechnology, 15(4), 1997, pp. 318-318
CLINICAL, BIOCHEMICAL, AND MOLECULAR INVESTIGATIONS OF A GENETIC ISOLATE OF GROWTH-HORMONE INSENSITIVITY (LARONS SYNDROME)
Authors: BAUMBACH L SCHIAVI A BARTLETT R PERERA E DAY J BROWN MR STEIN S EIDSON M PARKS JS CLEVELAND W
Citation: L. Baumbach et al., CLINICAL, BIOCHEMICAL, AND MOLECULAR INVESTIGATIONS OF A GENETIC ISOLATE OF GROWTH-HORMONE INSENSITIVITY (LARONS SYNDROME), The Journal of clinical endocrinology and metabolism, 82(2), 1997, pp. 444-451
X-LINKED LETHAL INFANTILE SPINAL MUSCULAR-ATROPHY (XL-SMA) - ADDITIONAL CLINICAL AND MOLECULAR STUDIES SUPPORT A DISEASE LOCUS AT XP11.3-Q11.2
Authors: BAUMBACH L YANG T CLARK RD GEORGE A PROUD V HOFFMAN E
Citation: L. Baumbach et al., X-LINKED LETHAL INFANTILE SPINAL MUSCULAR-ATROPHY (XL-SMA) - ADDITIONAL CLINICAL AND MOLECULAR STUDIES SUPPORT A DISEASE LOCUS AT XP11.3-Q11.2, American journal of human genetics, 61(4), 1997, pp. 1554-1554
A NOVEL PMP-22 MUTATION AND POLYMORPHISM IN SEVERE AFRICAN-AMERICAN CMT PATIENTS - IMPLICATIONS FOR DISEASE PHENOTYPES
Authors: PERERA E SHAPIRA E BRADLEY W BAUMBACH L
Citation: E. Perera et al., A NOVEL PMP-22 MUTATION AND POLYMORPHISM IN SEVERE AFRICAN-AMERICAN CMT PATIENTS - IMPLICATIONS FOR DISEASE PHENOTYPES, American journal of human genetics, 61(4), 1997, pp. 2008-2008
FAMILIAL SHORT STATURE DUE TO A HETEROZYGOUS MUTATION IN THE GROWTH-HORMONE RECEPTOR
Authors: SANCHEZ JE PERERA E CLEVELAND W BAUMBACH L
Citation: Je. Sanchez et al., FAMILIAL SHORT STATURE DUE TO A HETEROZYGOUS MUTATION IN THE GROWTH-HORMONE RECEPTOR, American journal of human genetics, 61(4), 1997, pp. 2023-2023
SEGMENTAL AND MOSAIC FORMS OF NEUROFIBROMATOSIS-1 - MOLECULAR AND EMBRYOLOGICAL INSIGHTS
Authors: WALLACE M BAUER M RASMUSSEN S BAUMBACH L
Citation: M. Wallace et al., SEGMENTAL AND MOSAIC FORMS OF NEUROFIBROMATOSIS-1 - MOLECULAR AND EMBRYOLOGICAL INSIGHTS, American journal of human genetics, 61(4), 1997, pp. 2414-2414
A GENE FOR A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS (X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY) MAPS TO HUMAN-CHROMOSOME XP11.3-Q11.2
Authors: KOBAYASHI H BAUMBACH L MATISE TC SCHIAVI A GREENBERG F HOFFMAN EP
Citation: H. Kobayashi et al., A GENE FOR A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS (X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY) MAPS TO HUMAN-CHROMOSOME XP11.3-Q11.2, Human molecular genetics, 4(7), 1995, pp. 1213-1216
PCR AMPLIFICATION AND DNA-SEQUENCE ANALYSIS OF ANCIENT DNA FROM 400-YEAR-OLD HUMAN SKELETAL SPECIMENS - GENETIC AND HISTORICAL PERSPECTIVES
Authors: PERERA E SCHIAVI A GONZALEZ R DAY J MORAES C BAUMBACH L
Citation: E. Perera et al., PCR AMPLIFICATION AND DNA-SEQUENCE ANALYSIS OF ANCIENT DNA FROM 400-YEAR-OLD HUMAN SKELETAL SPECIMENS - GENETIC AND HISTORICAL PERSPECTIVES, American journal of human genetics, 57(4), 1995, pp. 217-217
AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT
Authors: DUBE MP ROULEAU GA KIBAR Z FARLOW MR EBERS G HARPER P KOLODNY EH BAUMBACH L FIGLEWICZ DA
Citation: Mp. Dube et al., AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT, American journal of human genetics, 57(4), 1995, pp. 1093-1093
PREFERENTIAL TRANSCRIPTION FROM AN ACTIVATED CRYPTIC SPLICE-SITE RESULTS IN ABERRANT MESSENGER-RNA PROCESSING AND PROTEIN TRUNCATION IN A BAHAMIAN GENETIC ISOLATE OF LARON SYNDROME
Authors: SCHIAVI A BARTLETT R BROWN M STEIN S EIDSON M PARKS J CLEVELAND W BAUMBACH L
Citation: A. Schiavi et al., PREFERENTIAL TRANSCRIPTION FROM AN ACTIVATED CRYPTIC SPLICE-SITE RESULTS IN ABERRANT MESSENGER-RNA PROCESSING AND PROTEIN TRUNCATION IN A BAHAMIAN GENETIC ISOLATE OF LARON SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1313-1313
A GENE FOR X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY (A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS) MAPS TO XP11.3-Q11.2
Authors: KOBAYASHI H BAUMBACH L MATISE TC SCHIAVI A GREENBERG F HOFFMAN EP
Citation: H. Kobayashi et al., A GENE FOR X-LINKED INFANTILE SPINAL MUSCULAR-ATROPHY (A SEVERE LETHAL FORM OF X-LINKED ARTHROGRYPOSIS) MAPS TO XP11.3-Q11.2, American journal of human genetics, 57(4), 1995, pp. 1881-1881
DRAMATIC RESPONSE TO LOW-DOSE PREDNISONE IN A BOY WITH CHRONIC PROGRESSIVE MYOPATHY
Authors: BRADLEY WG AYYAR DR CURLESS RG HOFFMAN EP BAUMBACH L
Citation: Wg. Bradley et al., DRAMATIC RESPONSE TO LOW-DOSE PREDNISONE IN A BOY WITH CHRONIC PROGRESSIVE MYOPATHY, Neurology, 44(4), 1994, pp. 10000199-10000199
IDENTIFICATION OF A CANDIDATE DISEASE REGION FOR X-LINKED LETHAL SPINAL MUSCULAR-ATROPHY THROUGH PCR-BASED AUTOMATED SCREENING
Authors: BAUMBACH L KOBAYASHI H HOFFMAN E SCHIAVI A GREENBERG F
Citation: L. Baumbach et al., IDENTIFICATION OF A CANDIDATE DISEASE REGION FOR X-LINKED LETHAL SPINAL MUSCULAR-ATROPHY THROUGH PCR-BASED AUTOMATED SCREENING, Neurology, 44(4), 1994, pp. 10000221-10000221
X-LINKED INHERITANCE OF INFANTILE SPINAL MUSCULAR-ATROPHY (SMA) - EVIDENCE FOR GENETIC-HETEROGENEITY IN THE PROXIMAL SPINAL MUSCULAR ATROPHIES
Authors: BAUMBACH L BEST R EDWARDS J HOFFMAN E
Citation: L. Baumbach et al., X-LINKED INHERITANCE OF INFANTILE SPINAL MUSCULAR-ATROPHY (SMA) - EVIDENCE FOR GENETIC-HETEROGENEITY IN THE PROXIMAL SPINAL MUSCULAR ATROPHIES, Neurology, 43(4), 1993, pp. 416-416
IDENTIFICATION OF A BAHAMIAN GENETIC ISOLATE WITH LARON SYNDROME - MOLECULAR INVESTIGATIONS OF THE LIVING POPULATION AND ITS GENETIC-RELATIONSHIP TO 17TH-CENTURY ANCESTRAL REMAINS
Authors: BAUMBACH L SCHIAVI A GONZALEZ R TAPLEY S MORAES C STEIN S EIDSON M UNDERWOOD L CLEVELAND W
Citation: L. Baumbach et al., IDENTIFICATION OF A BAHAMIAN GENETIC ISOLATE WITH LARON SYNDROME - MOLECULAR INVESTIGATIONS OF THE LIVING POPULATION AND ITS GENETIC-RELATIONSHIP TO 17TH-CENTURY ANCESTRAL REMAINS, Clinical research, 41(4), 1993, pp. 10000789-10000789
X-LINKED INFANTILE LETHAL ANTERIOR HORN CELL DISEASE PROVIDES EVIDENCE FOR GENETIC-HETEROGENEITY WITHIN THE PROXIMAL SPINAL MUSCULAR ATROPHIES
Authors: BAUMBACH L BHASKAR A HOFFMAN E EDWARDS J HEJTMANICK JF BEST B
Citation: L. Baumbach et al., X-LINKED INFANTILE LETHAL ANTERIOR HORN CELL DISEASE PROVIDES EVIDENCE FOR GENETIC-HETEROGENEITY WITHIN THE PROXIMAL SPINAL MUSCULAR ATROPHIES, American journal of human genetics, 53(3), 1993, pp. 399-399
MUTATION ANALYSIS OF A GENETIC ISOLATE WITH LARON SYNDROME
Authors: TAPLEY S STEIN S EIDSON M CLEVELAND W BAUMBACH L
Citation: S. Tapley et al., MUTATION ANALYSIS OF A GENETIC ISOLATE WITH LARON SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1679-1679
Risultati: 1-18 |