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Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
May 29, 2023
A multicenter chart review of patient characteristics, treatment, and outcomes in hereditary angioedema: unmet need for more effective long-term prophylaxis
Joan Mendivil, Maral DerSarkissian, Aleena Banerji, et al.
Journal of Vitreoretinal Diseases
|
October 20, 2025
Efficacy of Intravitreal Pegcetacoplan vs Avacincaptad Pegol in Patients With Geographic Atrophy
Paul Hahn, David Eichenbaum, Dilsher S Dhoot, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, et al.
Prenatal Diagnosis
|
June 28, 2011
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
A L Mosca, L Pinson, J Andrieux, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
The British Journal of Dermatology
|
August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients
D Bessis, F Morice-Picard, E Bourrat, et al.
The British Journal of Dermatology
|
November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
D Bessis, J Miquel, E Bourrat, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Journal of Intellectual Disability Research : JIDR
|
October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
P A Mulder, I D C van Balkom, A M Landlust, et al.
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Showing results (141-150 of 150) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 150 results.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|
May 29, 2023
A multicenter chart review of patient characteristics, treatment, and outcomes in hereditary angioedema: unmet need for more effective long-term prophylaxis
Joan Mendivil, Maral DerSarkissian, Aleena Banerji, et al.
Journal of Vitreoretinal Diseases
|
October 20, 2025
Efficacy of Intravitreal Pegcetacoplan vs Avacincaptad Pegol in Patients With Geographic Atrophy
Paul Hahn, David Eichenbaum, Dilsher S Dhoot, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, et al.
Prenatal Diagnosis
|
June 28, 2011
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
A L Mosca, L Pinson, J Andrieux, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
The British Journal of Dermatology
|
August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients
D Bessis, F Morice-Picard, E Bourrat, et al.
The British Journal of Dermatology
|
November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
D Bessis, J Miquel, E Bourrat, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Journal of Intellectual Disability Research : JIDR
|
October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
P A Mulder, I D C van Balkom, A M Landlust, et al.
Page
of 15