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Journal of Stomatology, Oral and Maxillofacial Surgery
|
November 29, 2021
Could pharyngeal fat injection be a first-line treatment of velopharyngeal insufficiency?
Garance Diallo-Hornez, Roman Hossein Khonsari, Jacques-Marie Mercier, et al.
Neurology. Clinical Practice
|
May 1, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report
Pierre-Louis Lanvin, Dong Li, Solène Conrad, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2006
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
Alain Verloes, Dominique Bremond-Gignac, Bertrand Isidor, et al.
JBMR Plus
|
October 5, 2018
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes
Corinne Collet, Agnès Ostertag, Manon Ricquebourg, et al.
Molecular Genetics and Metabolism Reports
|
June 18, 2021
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Soraya Sakhi, Sophie Cholet, Samer Wehbi, et al.
Clinical Genetics
|
December 14, 2021
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Jonathan Lévy, Guillaume Cogan, Anna Maruani, et al.
Journal of Medical Genetics
|
June 18, 2020
<i>SETD1B</i>-associated neurodevelopmental disorder
Alexandra Roston, Dan Evans, Harinder Gill, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
Alfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Orphanet Journal of Rare Diseases
|
April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
European Journal of Human Genetics : EJHG
|
October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
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of 37
Search research articles
Search
Showing results (81-90 of 365) with videos related to
Sort By:
Page
of 37
Journal of Stomatology, Oral and Maxillofacial Surgery
|
November 29, 2021
Could pharyngeal fat injection be a first-line treatment of velopharyngeal insufficiency?
Garance Diallo-Hornez, Roman Hossein Khonsari, Jacques-Marie Mercier, et al.
Neurology. Clinical Practice
|
May 1, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report
Pierre-Louis Lanvin, Dong Li, Solène Conrad, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2006
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
Alain Verloes, Dominique Bremond-Gignac, Bertrand Isidor, et al.
JBMR Plus
|
October 5, 2018
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes
Corinne Collet, Agnès Ostertag, Manon Ricquebourg, et al.
Molecular Genetics and Metabolism Reports
|
June 18, 2021
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Soraya Sakhi, Sophie Cholet, Samer Wehbi, et al.
Clinical Genetics
|
December 14, 2021
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Jonathan Lévy, Guillaume Cogan, Anna Maruani, et al.
Journal of Medical Genetics
|
June 18, 2020
<i>SETD1B</i>-associated neurodevelopmental disorder
Alexandra Roston, Dan Evans, Harinder Gill, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
Alfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Orphanet Journal of Rare Diseases
|
April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
European Journal of Human Genetics : EJHG
|
October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
Page
of 37