Meenakshi Bhat

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg et al. · The American Journal of Human Genetics · 2009 · 138 citations · Full text

Developmental Anomaly, Distinctive Presentation, Developmental Biology +6

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 102 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +15

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri et al. · BMC Medical Genetics · 2020 · 74 citations · Full text

Expression of β-Defensin Genes in Bovine Alveolar Macrophages

Lisa K. Ryan, Janice Rhodes, Meenakshi Bhat et al. · Infection and Immunity · 1998 · 71 citations · Full text

Inflammatory Lung Disease, Lung Inflammation, Immunology +16

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Thatjana Gardeitchik et al. · Molecular Genetics and Metabolism · 2013 · 71 citations

Biology, Genetic Disorder, Genetics +6