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European Journal of Human Genetics : EJHG
|
July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2019
Anthropometric characteristics of newborns with Prader-Willi syndrome
Alessandro Salvatoni, Alex Moretti, Graziano Grugni, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
Sietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Epilepsia Open
|
July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, 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
|
January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Lorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
Frontiers in Endocrinology
|
August 21, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, et al.
Human Genetics
|
March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2023
The Italian registry for patients with Prader-Willi syndrome
Marco Salvatore, Paola Torreri, Graziano Grugni, et al.
Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society
|
September 6, 2019
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment
Viviana Valeria Palmieri, Antonella Lonero, Sarah Bocchini, et al.
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of 5
Search research articles
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Showing results (31-40 of 44) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2019
Anthropometric characteristics of newborns with Prader-Willi syndrome
Alessandro Salvatoni, Alex Moretti, Graziano Grugni, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
Sietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Epilepsia Open
|
July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, 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
|
January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Lorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
Frontiers in Endocrinology
|
August 21, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, et al.
Human Genetics
|
March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2023
The Italian registry for patients with Prader-Willi syndrome
Marco Salvatore, Paola Torreri, Graziano Grugni, et al.
Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society
|
September 6, 2019
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment
Viviana Valeria Palmieri, Antonella Lonero, Sarah Bocchini, et al.
Page
of 5