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Results: 1-13 |
Results: 13
SEVERE PRENATAL GROWTH-RETARDATION, DYSMORPHIC FEATURES, PIGMENTARY RETINOPATHY, AND GENERALIZED ABSENCE OF SUBCUTANEOUS TISSUES - A NEW ENTITY
Authors: NOWACZYK MJM HUGHES HE COSTA T CLARKE JTR
Citation: Mjm. Nowaczyk et al., SEVERE PRENATAL GROWTH-RETARDATION, DYSMORPHIC FEATURES, PIGMENTARY RETINOPATHY, AND GENERALIZED ABSENCE OF SUBCUTANEOUS TISSUES - A NEW ENTITY, Clinical dysmorphology, 7(4), 1998, pp. 263-268
SMITH-LEMLI-OPITZ-SYNDROME - PHENOTYPIC EXTREME WITH MINIMAL CLINICALFINDINGS
Authors: NOWACZYK MJM WHELAN DT HILL RE
Citation: Mjm. Nowaczyk et al., SMITH-LEMLI-OPITZ-SYNDROME - PHENOTYPIC EXTREME WITH MINIMAL CLINICALFINDINGS, American journal of medical genetics, 78(5), 1998, pp. 419-423
SCHIMKE IMMUNOOSSEOUS DYSPLASIA COMPLICATED BY MOYAMOYA PHENOMENON
Authors: BOERKOEL CF NOWACZYK MJM BLASER SI MESCHINO WS WEKSBERG R
Citation: Cf. Boerkoel et al., SCHIMKE IMMUNOOSSEOUS DYSPLASIA COMPLICATED BY MOYAMOYA PHENOMENON, American journal of medical genetics, 78(2), 1998, pp. 118-122
MULTIPLE CONGENITAL-ANOMALIES IN A FETUS WITH 45,X 46,X,R(X) (P11.22Q12) MOSAICISM/
Authors: NOWACZYK MJM RAMSAY JA MOHIDE P TOMKINS DJ
Citation: Mjm. Nowaczyk et al., MULTIPLE CONGENITAL-ANOMALIES IN A FETUS WITH 45,X 46,X,R(X) (P11.22Q12) MOSAICISM/, American journal of medical genetics, 77(4), 1998, pp. 306-309
CENTRAL-NERVOUS-SYSTEM MALFORMATIONS IN ETHYLMALONIC ENCEPHALOPATHY
Authors: NOWACZYK MJM BLASER SI CLARKE JTR
Citation: Mjm. Nowaczyk et al., CENTRAL-NERVOUS-SYSTEM MALFORMATIONS IN ETHYLMALONIC ENCEPHALOPATHY, American journal of medical genetics, 75(3), 1998, pp. 292-296
ETHYLMALONIC AND METHYLSUCCINIC ACIDURIA IN ETHYLMALONIC ENCEPHALOPATHY ARISE FROM ABNORMAL ISOLEUCINE METABOLISM
Authors: NOWACZYK MJM LEHOTAY DC PLATT BA FISHER L TAN R PHILLIPS H CLARKE JTR
Citation: Mjm. Nowaczyk et al., ETHYLMALONIC AND METHYLSUCCINIC ACIDURIA IN ETHYLMALONIC ENCEPHALOPATHY ARISE FROM ABNORMAL ISOLEUCINE METABOLISM, Metabolism, clinical and experimental, 47(7), 1998, pp. 836-839
DELETION-4Q21 4Q22 SYNDROME - 2 PATIENTS WITH DE-NOVO 4Q21.3Q23 AND 4Q13.2Q23 DELETIONS/
Authors: NOWACZYK MJM TESHIMA IE SIEGELBARTELT J CLARKE JTR
Citation: Mjm. Nowaczyk et al., DELETION-4Q21 4Q22 SYNDROME - 2 PATIENTS WITH DE-NOVO 4Q21.3Q23 AND 4Q13.2Q23 DELETIONS/, American journal of medical genetics, 69(4), 1997, pp. 400-405
HIRSCHSPRUNG DISEASE, POSTAXIAL POLYDACTYLY, AND ATRIAL SEPTAL-DEFECT
Authors: NOWACZYK MJM JAMES AG SUPERINA R SIEGELBARTELT J
Citation: Mjm. Nowaczyk et al., HIRSCHSPRUNG DISEASE, POSTAXIAL POLYDACTYLY, AND ATRIAL SEPTAL-DEFECT, American journal of medical genetics, 68(1), 1997, pp. 74-75
IMMUNOABLATION DOES NOT DELAY THE NEUROLOGIC PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY
Authors: NOWACZYK MJM SAUNDERS EF TEIN I BLASER SI CLARKE JTR
Citation: Mjm. Nowaczyk et al., IMMUNOABLATION DOES NOT DELAY THE NEUROLOGIC PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY, The Journal of pediatrics, 131(3), 1997, pp. 453-455
CARDIOMYOPATHY IN MUCOPOLYSACCHARIDOSIS-I - GENOTYPE-PHENOTYPE CORRELATION IN 3 PATIENTS
Authors: NOWACZYK MJM CLARKE LA CLARKE JTR
Citation: Mjm. Nowaczyk et al., CARDIOMYOPATHY IN MUCOPOLYSACCHARIDOSIS-I - GENOTYPE-PHENOTYPE CORRELATION IN 3 PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1502-1502
THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY
Authors: FEIGENBAUM A CHITAYAT D ROBINSON B MACGREGOR D MYINT T ARBUS G NOWACZYK MJM
Citation: A. Feigenbaum et al., THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY, American journal of medical genetics, 62(4), 1996, pp. 404-409
BONE-MARROW INVOLVEMENT AND OBSTRUCTIVE-JAUNDICE IN FARBER LIPOGRANULOMATOSIS - CLINICAL AND AUTOPSY REPORT OF A NEW CASE
Authors: NOWACZYK MJM FEIGENBAUM A SILVER MM CALLAHAN J LEVIN A JAY V
Citation: Mjm. Nowaczyk et al., BONE-MARROW INVOLVEMENT AND OBSTRUCTIVE-JAUNDICE IN FARBER LIPOGRANULOMATOSIS - CLINICAL AND AUTOPSY REPORT OF A NEW CASE, Journal of inherited metabolic disease, 19(5), 1996, pp. 655-660
DE-NOVO 4Q22 DELETION - REPORT OF 2 PATIENTS AND DELINEATION OF CLINICAL SYNDROME
Authors: NOWACZYK MJM TESHIMA IE SIEGELBARTELT J CLARKE JTR
Citation: Mjm. Nowaczyk et al., DE-NOVO 4Q22 DELETION - REPORT OF 2 PATIENTS AND DELINEATION OF CLINICAL SYNDROME, Pediatric research, 39(4), 1996, pp. 482-482
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