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Andrea Superti-Furga

Showing results (51-60 of 234) with videos related to

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American Journal of Medical Genetics. Part A|November 15, 2007
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findingsDavid Chitayat, Patrick Shannon, Sarah Keating, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
TRPV4-associated skeletal dysplasiasGen Nishimura, Ekkehart Lausch, Ravi Savarirayan, et al.
Journal of Human Genetics|May 28, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Tae-Joon Cho, Sheila Unger, et al.
Scientific Reports|May 20, 2015
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndromeSilvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, et al.
Molecular Genetics and Metabolism Reports|April 19, 2021
Classical homocystinuria, is it safe to exercise?Aurel T Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
European Journal of Pediatrics|October 22, 2008
Drug dosing error with drops: severe clinical course of codeine intoxication in twinsMaren Hermanns-Clausen, Wolfgang Weinmann, Volker Auwärter, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene locationTiong Yang Tan, George McGillivray, Louise Kornman, et al.
Journal of Clinical Lipidology|July 2, 2022
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndromeIsis Atallah, Dominique McCormick, Jean-Marc Good, et al.
Heart Rhythm|March 30, 2022
SCN5A overlap syndromes: An open-minded approachAlessandra P Porretta, Vincent Probst, Zahurul A Bhuiyan, et al.
Pageof 24

Showing results (51-60 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|November 15, 2007
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findingsDavid Chitayat, Patrick Shannon, Sarah Keating, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
TRPV4-associated skeletal dysplasiasGen Nishimura, Ekkehart Lausch, Ravi Savarirayan, et al.
Journal of Human Genetics|May 28, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Tae-Joon Cho, Sheila Unger, et al.
Scientific Reports|May 20, 2015
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndromeSilvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, et al.
Molecular Genetics and Metabolism Reports|April 19, 2021
Classical homocystinuria, is it safe to exercise?Aurel T Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
European Journal of Pediatrics|October 22, 2008
Drug dosing error with drops: severe clinical course of codeine intoxication in twinsMaren Hermanns-Clausen, Wolfgang Weinmann, Volker Auwärter, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene locationTiong Yang Tan, George McGillivray, Louise Kornman, et al.
Journal of Clinical Lipidology|July 2, 2022
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndromeIsis Atallah, Dominique McCormick, Jean-Marc Good, et al.
Heart Rhythm|March 30, 2022
SCN5A overlap syndromes: An open-minded approachAlessandra P Porretta, Vincent Probst, Zahurul A Bhuiyan, et al.
Pageof 24