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Orphanet Journal of Rare Diseases
|
June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Elena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Cancer Letters
|
August 7, 2023
The CAIX inhibitor SLC-0111 exerts anti-cancer activity on gastric cancer cell lines and resensitizes resistant cells to 5-Fluorouracil, taxane-derived, and platinum-based drugs
Elena Andreucci, Alessio Biagioni, Sara Peri, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
Tara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Alexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Kidney International
|
February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.
Plos Genetics
|
May 3, 2011
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome
Margot E Bowen, Eric D Boyden, Ingrid A Holm, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
Andrea Gazzin, Marta Calvo, Federico Rondot, et al.
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Showing results (61-70 of 69) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 69 results.
Orphanet Journal of Rare Diseases
|
June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Elena Andreucci, Salim Aftimos, Melanie Alcausin, et al.
Cancer Letters
|
August 7, 2023
The CAIX inhibitor SLC-0111 exerts anti-cancer activity on gastric cancer cell lines and resensitizes resistant cells to 5-Fluorouracil, taxane-derived, and platinum-based drugs
Elena Andreucci, Alessio Biagioni, Sara Peri, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
Tara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Alexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Kidney International
|
February 25, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al.
Plos Genetics
|
May 3, 2011
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome
Margot E Bowen, Eric D Boyden, Ingrid A Holm, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
Andrea Gazzin, Marta Calvo, Federico Rondot, et al.
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of 7