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Showing 1 - 20 results of 24 for search '"brachydactyly"', query time: 0.88s Refine Results
  1. 1
    Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report
    Subjects: “...brachydactyly type E...”
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  2. 2
    A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
    by Mohan Liu, Xueguang Zhang, Hongqian Liu, Ying Shen
    Published 2020-09-01
    Subjects: “...brachydactyly...”
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  3. 3
    Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
    Subjects: “...Brachydactyly...”
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  4. 4
    Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome
    Subjects: “...brachydactyly...”
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  5. 5
    Albright Hereditary Osteodystrophy: A Case Report
    Subjects: “...brachydactyly...”
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    Article
  6. 6
    Mini External Fixator Assisted Metacarpal Lengthening With The Distraction Method
    Subjects: “...brachydactyly...”
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    Article
  7. 7
    Congenital deformity of the distal extremities in three dogs
    Subjects: “...Brachydactyly...”
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    Article
  8. 8
    BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
    Subjects: “...brachydactyly...”
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    Article
  9. 9
    Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome
    Subjects: “...brachydactyly...”
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    Article
  10. 10
    A novel variant of IHH in a Chinese family with brachydactyly type 1
    Subjects: “...Brachydactyly type A1...”
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  11. 11
    Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
    Subjects: “...Brachydactyly type A1...”
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  12. 12
    Dissection and analysis of a complex cadaveric hand dysmorphology
    by Samantha M. Simet, Keely M. Cassidy
    Published 2021-11-01
    Subjects: “...Brachydactyly...”
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  13. 13
    Informe clínico de dismorfias múltiples con agregación familiar
    Subjects: “...brachydactyly...”
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    Article
  14. 14
    Morphological abnormalities in a population of Pleurodeles waltl (Caudata: Salamandridae) from southwestern Spain
    by Francisco Javier Zamora-Camacho
    Published 2020-06-01
    Subjects: “...Brachydactyly...”
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    Article
  15. 15
    Study of brachydactyly in gipsy population: Description of a familial case
    Subjects: “...Brachydactyly...”
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  16. 16
    What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
    Subjects: “...Brachydactyly...”
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    Article
  17. 17
    Novel Mutation in Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
    Subjects: “...Brachydactyly...”
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    Article
  18. 18
    p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation
    Subjects: “...Brachydactyly type A1...”
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    Article
  19. 19
    Back to life – Exoskeletal finger-prosthesis in a semiprofessional boxer – limitations of reconstructive surgery in symbrachydactyly [Zurück ins Leben – Epithesenversorgung bei einer semiprofessionellen Boxerin – Limitationen der rekonstruktiven Chirurgie bei der Symbrachydaktylie]
    Subjects: “...brachydactyly...”
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  20. 20
    2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance
    Subjects: “...brachydactyly-mental retardation syndrome...”
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    Article
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