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Journal Article
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 344 - 349
Journal Article
The Journal of immunology (1950), ISSN 1550-6606, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
Life Sciences & Biomedicine | Immunology | Science & Technology | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics | Index Medicus | Abridged Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1476-5438, 02/2012, Volume 20, Issue 6, pp. 598 - 606
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2000, Volume 24, Issue 3, pp. 266 - 270
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2617 - 2631
Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in SMAD4. The characteristic phenotype includes short stature,... 
cardiovascular malformation | pericardial effusion | coarctation | pericarditis | restrictive cardiomyopathy | SMAD4 mutations | congenital heart defect | TGF‐β signaling | TGF-β signaling | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exons | Humans | Male | Tomography, X-Ray Computed | Cardiovascular Abnormalities - diagnosis | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Young Adult | Hand Deformities, Congenital - therapy | Smad4 Protein - genetics | Facies | Ultrasonography | Adult | Female | Growth Disorders - therapy | Child | Echocardiography | Genetic Association Studies | Cardiovascular Abnormalities - therapy | Cryptorchidism - diagnosis | Growth Disorders - diagnosis | Cardiovascular Abnormalities - genetics | In Situ Hybridization, Fluorescence | Treatment Outcome | Intellectual Disability - therapy | Magnetic Resonance Imaging | Phenotype | Hand Deformities, Congenital - genetics | Intellectual Disability - diagnosis | Adolescent | High-Throughput Nucleotide Sequencing | Mutation | Growth Disorders - genetics | Cryptorchidism - genetics | Cryptorchidism - therapy | Hypertension | Care and treatment | Genetic disorders | Mortality | Bone morphogenetic proteins | Genetic aspects | Congenital heart disease | Transforming growth factors | Index Medicus
Journal Article
Journal Article