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Results:
1-9
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Results: 9
Authors:
DEGOUYON BM
ZHAO W
LAPORTE J
MANDEL JL
METZENBERG A
HERMAN GE
Citation: Bm. Degouyon et al., CHARACTERIZATION OF MUTATIONS IN THE MYOTUBULARIN GENE IN 26 PATIENTSWITH X-LINKED MYOTUBULAR MYOPATHY, Human molecular genetics, 6(9), 1997, pp. 1499-1504
Authors:
HERMAN GE
FEIGENBAUM A
ZHAO W
FINEGOLD M
DEGOUYON B
LAPORTE J
MANDEL JL
METZENBERG A
Citation: Ge. Herman et al., MEDICAL COMPLICATIONS IN LONG-TERM SURVIVORS WITH X-LINKED MYOTUBULARMYOPATHY (MTM1), American journal of human genetics, 61(4), 1997, pp. 259-259
Authors:
HU LJ
LAPORTE J
KRESS W
KIOSCHIS P
SIEBENHAAR R
POUSTKA A
FARDEAU M
METZENBERG A
JANSSEN EA
THOMAS N
MANDEL JL
DAHL N
Citation: Lj. Hu et al., DELETIONS IN XQ28 IN 2 BOYS WITH MYOTUBULAR MYOPATHY AND ABNORMAL GENITAL DEVELOPMENT DEFINE A NEW CONTIGUOUS GENE SYNDROME IN A 430 KB REGION, Human molecular genetics, 5(1), 1996, pp. 139-143
Authors:
ELDER B
KUO K
GITSCHIER J
KIM A
CHISHTI A
METZENBERG A
Citation: B. Elder et al., CDNA SEQUENCE AND GENOMIC STRUCTURE OF THE MURINE P55 (MPP1) GENE, Genomics, 38(2), 1996, pp. 231-234
NEW MUTATIONS IN THE GENE ENCODING EMERIN THAT ARE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors:
METZENBERG A
GITSCHIER J
Citation: A. Metzenberg et J. Gitschier, NEW MUTATIONS IN THE GENE ENCODING EMERIN THAT ARE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1271-1271
Authors:
JOUET M
ROSENTHAL A
ARMSTRONG G
MACFARLANE J
STEVENSON R
PATERSON J
METZENBERG A
IONASESCU V
TEMPLE K
KENWRICK S
Citation: M. Jouet et al., X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE, Nature genetics, 7(3), 1994, pp. 402-407
Authors:
FREUNDLICH M
METZENBERG A
PAN Y
Citation: M. Freundlich et al., NEPHROGENIC DIABETES-INSIPIDUS (NDI) WITHOUT DETECTABLE VASOPRESSIN V2 RECEPTOR (V2R) GENE DEFECTS, Pediatric research, 35(4), 1994, pp. 10000364-10000364
Authors:
DAS S
METZENBERG A
PAI GS
GITSCHIER J
Citation: S. Das et al., MUTATIONAL ANALYSIS OF THE BIGLYCAN GENE EXCLUDES IT AS A CANDIDATE FOR X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA, DYSKERATOSIS-CONGENITA, AND INCONTINENTIA PIGMENTI, American journal of human genetics, 54(5), 1994, pp. 922-925
Authors:
PANG Y
METZENBERG A
RAVNAN B
WILSON P
GITSCHIER J
Citation: Y. Pang et al., MOLECULAR AND FUNCTIONAL-ANALYSIS OF THE V2-VASOPRESSIN RECEPTOR IN PATIENTS WITH NEPHROGENIC DIABETES-INSIPIDUS, American journal of human genetics, 53(3), 1993, pp. 938-938
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1-9
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