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A Superti-Furga

Showing results (81-90 of 136) with videos related to

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European Journal of Pediatrics|April 1, 1996
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasiaF Berthet, C A Siegrist, H Ozsahin, et al.
Human Genetics|February 24, 2001
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndromeR Santer, M Kinner, M Passarge, et al.
European Journal of Pediatrics|January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNAA Superti-Furga, E Schoenle, P Tuchschmid, et al.
European Journal of Medical Genetics|April 28, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotypeL Tonelli, M Sanchini, A Margutti, et al.
Clinical Genetics|August 31, 1999
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasiaA Mégarbané, F A Haddad, S Haddad-Zebouni, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|February 19, 2009
Clostridium perfringens intestinal gas gangrene in a preterm newbornC A Hanke, R Hentschel, R Berner, et al.
American Journal of Medical Genetics|October 21, 1998
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1B A Bejjani, K C Oberg, I Wilkins, et al.
Journal of Medical Genetics|April 16, 2002
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)L Bonafé, S H Blanton, A Scott, et al.
The New England Journal of Medicine|February 22, 1990
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen geneA Superti-Furga, B Steinmann, B Lee, et al.
Der Internist|February 18, 1998
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]E Laubach, M M Ritter, C Giunta, et al.
Pageof 14

Showing results (81-90 of 136) with videos related to

Sort By:
Pageof 14
European Journal of Pediatrics|April 1, 1996
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasiaF Berthet, C A Siegrist, H Ozsahin, et al.
Human Genetics|February 24, 2001
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndromeR Santer, M Kinner, M Passarge, et al.
European Journal of Pediatrics|January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNAA Superti-Furga, E Schoenle, P Tuchschmid, et al.
European Journal of Medical Genetics|April 28, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotypeL Tonelli, M Sanchini, A Margutti, et al.
Clinical Genetics|August 31, 1999
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasiaA Mégarbané, F A Haddad, S Haddad-Zebouni, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|February 19, 2009
Clostridium perfringens intestinal gas gangrene in a preterm newbornC A Hanke, R Hentschel, R Berner, et al.
American Journal of Medical Genetics|October 21, 1998
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1B A Bejjani, K C Oberg, I Wilkins, et al.
Journal of Medical Genetics|April 16, 2002
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)L Bonafé, S H Blanton, A Scott, et al.
The New England Journal of Medicine|February 22, 1990
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen geneA Superti-Furga, B Steinmann, B Lee, et al.
Der Internist|February 18, 1998
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]E Laubach, M M Ritter, C Giunta, et al.
Pageof 14