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Garavelli

Showing results (481-490 of 609) with videos related to

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American Journal of Medical Genetics. Part A|March 21, 2008
Holt-Oram syndrome associated with anomalies of the feetL Garavelli, D De Brasi, R Verri, et al.
Oncotarget|September 27, 2014
Notch signaling drives multiple myeloma induced osteoclastogenesisMichela Colombo, Katja Thümmler, Leonardo Mirandola, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Genetic Counseling (Geneva, Switzerland)|August 6, 2005
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literatureL Garavelli, K Leask, C Zanacca, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
European Journal of Medical Genetics|December 28, 2014
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmiaLucia Mauri, Alessandra Franzoni, Manuela Scarcello, et al.
Nucleic Acids Research|December 10, 1998
The PIR-International Protein Sequence DatabaseW C Barker, J S Garavelli, P B McGarvey, et al.
Pageof 61

Showing results (481-490 of 609) with videos related to

Sort By:
Pageof 61
American Journal of Medical Genetics. Part A|March 21, 2008
Holt-Oram syndrome associated with anomalies of the feetL Garavelli, D De Brasi, R Verri, et al.
Oncotarget|September 27, 2014
Notch signaling drives multiple myeloma induced osteoclastogenesisMichela Colombo, Katja Thümmler, Leonardo Mirandola, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Genetic Counseling (Geneva, Switzerland)|August 6, 2005
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literatureL Garavelli, K Leask, C Zanacca, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Molecular Genetics and Metabolism Reports|July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjectsChristel Tran, Licia Turolla, Diana Ballhausen, et al.
European Journal of Medical Genetics|December 28, 2014
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmiaLucia Mauri, Alessandra Franzoni, Manuela Scarcello, et al.
Nucleic Acids Research|December 10, 1998
The PIR-International Protein Sequence DatabaseW C Barker, J S Garavelli, P B McGarvey, et al.
Pageof 61