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American Journal of Medical Genetics. Part A
|
August 17, 2013
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Gianfranco Savoldi, Claudia Izzi, Marino Signorelli, et al.
Plos Genetics
|
October 26, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, et al.
Prenatal Diagnosis
|
April 3, 2008
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia
Anastasia Konstantinidou, Charalampos Karadimas, Hans R Waterham, et al.
Scientific Reports
|
October 1, 2016
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach
Karin Pichler, Daniela Karall, Dieter Kotzot, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
Raffaele Renella, Elke Schaefer, Martine LeMerrer, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2011
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Sheila Unger, Ekkehart Lausch, Franco Stanzial, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly
Ahmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, et al.
Nature Communications
|
June 13, 2017
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, et al.
Skeletal Radiology
|
May 29, 2012
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients
Hye Jung Choo, Tae-Joon Cho, Junghan Song, et al.
Revue Medicale Suisse
|
June 21, 2023
[Management of genetic renal disorders: local experience and importance of the network]
Olivier Bonny, Alexandre Ketterer, Sofia Hermida, et al.
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of 24
Search research articles
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Showing results (101-110 of 234) with videos related to
Sort By:
Page
of 24
American Journal of Medical Genetics. Part A
|
August 17, 2013
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Gianfranco Savoldi, Claudia Izzi, Marino Signorelli, et al.
Plos Genetics
|
October 26, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, et al.
Prenatal Diagnosis
|
April 3, 2008
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia
Anastasia Konstantinidou, Charalampos Karadimas, Hans R Waterham, et al.
Scientific Reports
|
October 1, 2016
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach
Karin Pichler, Daniela Karall, Dieter Kotzot, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
Raffaele Renella, Elke Schaefer, Martine LeMerrer, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2011
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Sheila Unger, Ekkehart Lausch, Franco Stanzial, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly
Ahmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, et al.
Nature Communications
|
June 13, 2017
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, et al.
Skeletal Radiology
|
May 29, 2012
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients
Hye Jung Choo, Tae-Joon Cho, Junghan Song, et al.
Revue Medicale Suisse
|
June 21, 2023
[Management of genetic renal disorders: local experience and importance of the network]
Olivier Bonny, Alexandre Ketterer, Sofia Hermida, et al.
Page
of 24