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M J Nowaczyk

Showing results (21-30 of 32) with videos related to

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American Journal of Medical Genetics|July 23, 1998
Schimke immunoosseous dysplasia complicated by moyamoya phenomenonC F Boerkoel, M J Nowaczyk, S I Blaser, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new caseM J Nowaczyk, A Feigenbaum, M M Silver, et al.
American Journal of Medical Genetics|November 24, 1999
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetusM J Huggins, J R Mernagh, L Steele, et al.
American Journal of Medical Genetics|August 15, 2001
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndromeM J Nowaczyk, L M Nakamura, B Eng, et al.
American Journal of Medical Genetics|April 24, 1996
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathyA Feigenbaum, D Chitayat, B Robinson, et al.
American Journal of Perinatology|October 21, 2000
Recurrent familial neonatal deaths: hereditary surfactant protein B deficiencyC Andersen, J A Ramsay, L M Nogee, et al.
Metabolism: Clinical and Experimental|July 17, 1998
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolismM J Nowaczyk, D C Lehotay, B A Platt, et al.
Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Clinical Genetics|June 14, 2000
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiencyM J Nowaczyk, M J Huggins, D J Tomkins, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics|July 23, 1998
Schimke immunoosseous dysplasia complicated by moyamoya phenomenonC F Boerkoel, M J Nowaczyk, S I Blaser, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new caseM J Nowaczyk, A Feigenbaum, M M Silver, et al.
American Journal of Medical Genetics|November 24, 1999
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetusM J Huggins, J R Mernagh, L Steele, et al.
American Journal of Medical Genetics|August 15, 2001
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndromeM J Nowaczyk, L M Nakamura, B Eng, et al.
American Journal of Medical Genetics|April 24, 1996
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathyA Feigenbaum, D Chitayat, B Robinson, et al.
American Journal of Perinatology|October 21, 2000
Recurrent familial neonatal deaths: hereditary surfactant protein B deficiencyC Andersen, J A Ramsay, L M Nogee, et al.
Metabolism: Clinical and Experimental|July 17, 1998
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolismM J Nowaczyk, D C Lehotay, B A Platt, et al.
Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Clinical Genetics|June 14, 2000
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiencyM J Nowaczyk, M J Huggins, D J Tomkins, et al.
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