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M J Abramowicz

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The European Respiratory Journal|October 1, 2003
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutationM J Abramowicz, P Van Haecke, M Demedts, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplicationM J Abramowicz, P Cochaux, L H Cohen, et al.
American Journal of Medical Genetics|July 16, 1999
Sporadic case of trichorhinophalangeal syndrome type III in a European patientC Vilain, Y Sznajer, F Rypens, et al.
Human Mutation|April 11, 2001
A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 yearsR Demeester, J Parma, P Cochaux, et al.
The Journal of Clinical Investigation|June 15, 1997
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid glandM J Abramowicz, L Duprez, J Parma, et al.
Journal of Medical Genetics|August 3, 2000
Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR alleleM J Abramowicz, B Dessars, C Sevens, et al.
American Journal of Human Genetics|November 9, 2000
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32C R Jamieson, J P Fryns, J Jacobs, et al.
The European Respiratory Journal|November 1, 1992
Tumour-like presentation of pulmonary sarcoidosisM J Abramowicz, V Ninane, M Depierreux, et al.
Thrombosis and Haemostasis|August 1, 1996
Thrombosis associated with ovarian hyperstimulation syndrome in a carrier of the factor V Leiden mutationS Hollemaert, J C Wautrecht, P Capel, et al.
Pediatric Neurology|January 8, 1999
Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophyC L Wetzburger, N Van Regemorter, H B Szliwowski, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
The European Respiratory Journal|October 1, 2003
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutationM J Abramowicz, P Van Haecke, M Demedts, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplicationM J Abramowicz, P Cochaux, L H Cohen, et al.
American Journal of Medical Genetics|July 16, 1999
Sporadic case of trichorhinophalangeal syndrome type III in a European patientC Vilain, Y Sznajer, F Rypens, et al.
Human Mutation|April 11, 2001
A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 yearsR Demeester, J Parma, P Cochaux, et al.
The Journal of Clinical Investigation|June 15, 1997
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid glandM J Abramowicz, L Duprez, J Parma, et al.
Journal of Medical Genetics|August 3, 2000
Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR alleleM J Abramowicz, B Dessars, C Sevens, et al.
American Journal of Human Genetics|November 9, 2000
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32C R Jamieson, J P Fryns, J Jacobs, et al.
The European Respiratory Journal|November 1, 1992
Tumour-like presentation of pulmonary sarcoidosisM J Abramowicz, V Ninane, M Depierreux, et al.
Thrombosis and Haemostasis|August 1, 1996
Thrombosis associated with ovarian hyperstimulation syndrome in a carrier of the factor V Leiden mutationS Hollemaert, J C Wautrecht, P Capel, et al.
Pediatric Neurology|January 8, 1999
Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophyC L Wetzburger, N Van Regemorter, H B Szliwowski, et al.
Pageof 3