22 results on '"Parrón Pajares, Manuel"'
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2. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
3. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
4. Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases
5. Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia
6. Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
7. Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus
8. Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
10. Estreñimiento crónico debido a síndrome de Currarino
11. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
12. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature
13. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy
14. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
15. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
16. First case of compound heterozygousBHLHA9variants in mesoaxial synostotic syndactyly with phalangeal reduction
17. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.
18. First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
19. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
20. Patrones de presentación de la neumonía organizada mediante tomografía computarizada de alta resolución
21. [Chronic constipation due to Currarino syndrome].
22. [High-resolution computed tomography patterns of organizing pneumonia].
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