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  1. 161
    Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
    “...<p>Abstract</p> <p>Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a...”
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    Article
  2. 162
    Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease
    by Stephen R. Hooper
    Published 2017-05-01
    “... and neuropsychological impairment (e.g., a genetic condition leading to chronic kidney disease and eventual transplant...”
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    Article
  3. 163
    Uncertainty and Coping Style of Patients with Neurofibromatosis Type 1
    by Yi-Chen Chen, 陳怡禎
    Published 2011
    “... dominant genetic condition characterized by much variability in its physical and behavioral manifestations...”
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  4. 164
    Usher syndrome : a phenomenological study of adults across the lifespan living in England
    by Evans, Michelle Deborah
    Published 2017
    “...Usher syndrome is a rare inherited genetic condition which is one of the main causes of acquired...”
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  5. 165
    1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
    “... syndrome, it should be recommended that children with this genetic condition have screening for cardiac...”
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    Article
  6. 166
    Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis
    by Igor Barjaktarevic, Marc Miravitlles
    Published 2021-03-01
    “...Abstract Alpha-1 antitrypsin deficiency (AATD) is a significantly under-diagnosed genetic condition...”
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    Article
  7. 167
    A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation
    “... heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist...”
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    Article
  8. 168
    Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency
    by Belchamber KBR, Walker EM, Stockley RA, Sapey E
    Published 2020-12-01
    “... antitrypsin deficiency (AATD) is a genetic condition characterised by low circulating levels of alpha-1...”
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    Article
  9. 169
    Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype
    “...Aim Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk...”
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    Article
  10. 170
    Late diagnosis of agammaglobulinemia in an 8-year-old boy
    “.... It is a genetic condition associated with a mutation in the BTK gene encoding tyrosine kinase...”
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    Article
  11. 171
    Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture
    “.../2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis...”
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    Article
  12. 172
    Mowat–Wilson syndrome – case study
    “...Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies...”
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    Article
  13. 173
    Speech, language and swallowing in Huntington’ Disease
    “...Huntington’s disease (HD) has been described as a genetic condition caused by a mutation in the CAG...”
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    Article
  14. 174
    DiGeorge Syndrome: a not so rare disease
    “... facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have...”
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  15. 175
    Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical
    by María Virginia Solís
    Published 2000-06-01
    “... de deriva genética, específicamente el efecto fundador.<br>The Lafora disease is an uncommon genetic...”
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    Article
  16. 176
    The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney
    “...<p>Abstract</p> <p>Background</p> <p>Polycystic Kidney Disease (PKD) is a genetic condition...”
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    Article
  17. 177
    The Pathogenesis and Therapies of Striated Muscle Laminopathies
    “...Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures...”
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    Article
  18. 178
    The "serious handicap" clause in the Abortion Act 1967 : healthcare professionals' interpretations of the grounds for termination of pregnancy
    by Jacques, Gwen
    Published 2015
    “...If prenatal tests detect a genetic condition or abnormality in the fetus, a pregnant woman may...”
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  19. 179
    The TRH-R in human endocrine disease : structure, function and characterisation
    by Faccenda, Elena
    Published 1997
    “... of TRH was presumed to be a lethal genetic condition. Generation of a transgenic mouse TRH-R knock-out...”
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  20. 180
    Phenotypic consequences in black South African Fanconi anaemia patients homozygous for a FANCG 637-643 deletion mutation
    by Feben, Candice
    Published 2014
    “... and phenotypically heterogeneous genetic condition , characterized microscopically by chromosomal breakage...”
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