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BMC Endocrine Disorders
|
July 2, 2025
Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI
Cristina Aguilar-Riera, Diego Yeste, Núria González-Llorens, et al.
Journal of Clinical Medicine
|
April 13, 2024
Elevated Prostaglandin E<sub>2</sub> Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis
Silvia Gartner, Jordi Roca-Ferrer, Paula Fernandez-Alvarez, et al.
International Journal of Molecular Sciences
|
September 2, 2020
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, et al.
European Journal of Pediatrics
|
July 21, 2021
Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction
Ferran Gran, Andrea Fidalgo, Paola Dolader, et al.
Journal of Medical Genetics
|
July 3, 2024
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome
Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2025
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, et al.
Journal of the Neurological Sciences
|
February 8, 2023
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit
Daniel Sánchez-Tejerina, Paula Fernandez Alvarez, Elena Laínez, et al.
Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Human Molecular Genetics
|
July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
Erica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
Endocrine Connections
|
October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Luca Persani, Martine Cools, Stamatina Ioakim, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
BMC Endocrine Disorders
|
July 2, 2025
Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI
Cristina Aguilar-Riera, Diego Yeste, Núria González-Llorens, et al.
Journal of Clinical Medicine
|
April 13, 2024
Elevated Prostaglandin E<sub>2</sub> Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis
Silvia Gartner, Jordi Roca-Ferrer, Paula Fernandez-Alvarez, et al.
International Journal of Molecular Sciences
|
September 2, 2020
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, et al.
European Journal of Pediatrics
|
July 21, 2021
Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction
Ferran Gran, Andrea Fidalgo, Paola Dolader, et al.
Journal of Medical Genetics
|
July 3, 2024
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome
Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2025
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, et al.
Journal of the Neurological Sciences
|
February 8, 2023
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit
Daniel Sánchez-Tejerina, Paula Fernandez Alvarez, Elena Laínez, et al.
Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Human Molecular Genetics
|
July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
Erica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.
Endocrine Connections
|
October 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Luca Persani, Martine Cools, Stamatina Ioakim, et al.
Page
of 2