Ovariectomy Via 12/15-lipoxygenase Augments Angiotensin II-Induced Hypertension and Its Pathogenesis in Female Mice von Dutta, Shubha R., Singh, Purnima, Malik, Kafait U.

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Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease von Manisha, Rani, Phadke, Shubha R

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Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B von Masih, Suzena, Moirangthem, Amita, Phadke, Shubha R.

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Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability von Moirangthem, Amita, Phadke, Shubha R.

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Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program von Nilay, Mayank, Moirangthem, Amita, Saxena, Deepti, Mandal, Kausik, Phadke, Shubha R.

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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis von Martin, Carol-Anne, Murray, Jennie E, Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J, Halachev, Mihail, Fetit, Ahmed E, Keith, Charlotte, Bicknell, Louise S, Fluteau, Adeline, Gautier, Philippe, Hall, Emma A, Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B, Duker, Angela, Wise, Carol A, Quigley, Alan J, Phadke, Shubha R, Wood, Andrew J, Vagnarelli, Paola, Jackson, Andrew P

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T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy von Sait, Haseena, Shambhavi, Arya, Pandey, Manmohan, Ravichandran, Deepak, Phadke, Shubha R.

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The sequence of prime gaps is graphic von Erdős, Péter L., Harcos, Gergely, Kharel, Shubha R., Maga, Péter, Mezei, Tamás Róbert, Toroczkai, Zoltán

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Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature von Tiwari, Amit K, Srinivasan, Varunvenkat M, Phadke, Shubha R, Saxena, Deepti

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Renpenning syndrome in an Indian patient von Masih, Suzena, Moirangthem, Amita, Phadke, Shubha R.

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Genetic insight of schizophrenia: past and future perspectives von singh, Shweta, Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Jaiswal, Yamini

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Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl von Sait, Haseena, Moirangthem, Amita, Agrawal, Vinita, Phadke, Shubha R.

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Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk to idiopathic recurrent miscarriages von Misra, Maneesh Kumar, Ph.D, Mishra, Aditi, M.Tech, Phadke, Shubha R., D.M, Agrawal, Suraksha, Ph.D

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COQ7 splice site variant causing a spastic paraparesis phenotype in siblings von Sait, Haseena, Pandey, Manmohan, Phadke, Shubha R.

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Haemophilia management programme: Transformation during COVID-19 von Sait, Haseena, Sajjan, Shruti, Phadke, Shubha

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How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios von Srivastava, Priyanka, Chaudhry, Chakshu, Kaur, Anupriya, Phadke, Shubha, Panigrahi, Inusha

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Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism von Nilay, Mayank, Phadke, Shubha R.

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Peters-Plus with Anal Atresia and a Novel Frameshift Mutation von Agrawal, Neha, Phadke, Shubha R.

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Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism – Correspondence von Finsterer, Josef, Nilay, Mayank, Phadke, Shubha R.

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Degree-preserving network growth von Kharel, Shubha R., Mezei, Tamás R., Chung, Sukhwan, Erdős, Péter L., Toroczkai, Zoltan

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