Works matching AU Shukla, Anju

Results: 103

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Published in:

Neurogenetics, 2024, v. 25, n. 2, p. 85, doi. 10.1007/s10048-024-00743-1

By:

Kaur, Namanpreet;
Arora, Khyati;
Radhakrishnan, Periyasamy;
Narayanan, Dhanya Lakshmi;
Shukla, Anju

Publication type:

Article

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Published in:

Neurogenetics, 2023, v. 24, n. 2, p. 113, doi. 10.1007/s10048-023-00712-0

By:

Sait, Haseena;
Srivastava, Somya;
Pandey, Manmohan;
Ravichandran, Deepak;
Shukla, Anju;
Mandal, Kausik;
Saxena, Deepti;
Shambhavi, Arya;
Majethia, Purvi;
Rao, Lakshmi Priya;
Sharma, Suvasini;
Phadke, Shubha R.;
Moirangthem, Amita

Publication type:

Article

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 625, doi. 10.1002/humu.24368

By:

Holling, Tess;
Bhavani, Gandham S.;
von Elsner, Leonie;
Shah, Hitesh;
Kausthubham, Neethukrishna;
Bhattacharyya, Shaila S.;
Shukla, Anju;
Mortier, Geert R.;
Schinke, Thorsten;
Danyukova, Tatyana;
Pohl, Sandra;
Kutsche, Kerstin;
Girisha, Katta M.

Publication type:

Article

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172

By:

Kausthubham, Neethukrishna;
Shukla, Anju;
Gupta, Neerja;
Bhavani, Gandham S.;
Kulshrestha, Samarth;
Das Bhowmik, Aneek;
Moirangthem, Amita;
Bijarnia‐Mahay, Sunita;
Kabra, Madhulika;
Puri, Ratna D.;
Mandal, Kausik;
Verma, Ishwar C.;
Bielas, Stephanie L.;
Phadke, Shubha R.;
Dalal, Ashwin;
Girisha, Katta M.

Publication type:

Article

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 299, doi. 10.1002/humu.23693

By:

Girisha, Katta M.;
Elsner, Leonie;
Neethukrishna, Kausthubham;
Muranjan, Mamta;
Shukla, Anju;
Bhavani, Gandham SriLakshmi;
Nishimura, Gen;
Kutsche, Kerstin;
Mortier, Geert

Publication type:

Article

CREATIVITY AND DECISION MAKING STYLES: A STUDY OF ASSOCIATES WORKING IN NATIONAL CAPITAL REGION OF INDIA.

Published in:

Global Management Review, 2017, v. 11, n. 2, p. 1

By:

LATHER, ANU SINGH;
JAIN, SHILPA;
SHUKLA, ANJU

Publication type:

Article

Non-steroidal Anti-inflammatory Drug Induced Duodenal Diaphragm Managed with Endoscopic Dilation.

Published in:

Tropical Gastroenterology, 2020, v. 41, n. 2, p. 99

By:

Gupta, Ankur;
Sonkar, Devendra;
Shukla, Anju

Publication type:

Article

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.

Published in:

Indian Journal of Medical Research, 2014, v. 139, n. 1, p. 66

By:

Boggula, Vijay R.;
Shukla, Anju;
Danda, Sumita;
Hariharan, Sankar V.;
Nampoothiri, Sheela;
Kumar, Rashmi;
Phadke, Shubha R.

Publication type:

Article

Developmental delay and assessment in an infant with PCWH syndrome: A case report.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22

By:

Kumar, Ashna;
do Rosario, Michelle;
Siddiqui, Shahyan;
Garg, Divyani;
Shukla, Anju;
Sharma, Suvasini

Publication type:

Article

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Published in:

Ophthalmic Genetics, 2017, v. 38, n. 6, p. 533, doi. 10.1080/13816810.2017.1301967

By:

Somashekar, Puneeth H.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091

By:

Dupont, Marie Alice;
Humbert, Camille;
Huber, Céline;
Siour, Quentin;
Guerrera, Ida Chiara;
Jung, Vincent;
Christensen, Anni;
Pouliet, Aurore;
Garfa-Traoré, Meriem;
Nitschké, Patrick;
Injeyan, Marie;
Millar, Kathryn;
Chitayat, David;
Shannon, Patrick;
Girisha, Katta Mohan;
Shukla, Anju;
Mechler, Charlotte;
Lorentzen, Esben;
Benmerah, Alexandre;
Cormier-Daire, Valérie

Publication type:

Article

Synthesis, spectroscopic characterization and Antibacterial screening of some new cefotaxime sodium derivatives.

Published in:

Arabian Journal of Chemistry, 2019, v. 12, n. 8, p. 2133, doi. 10.1016/j.arabjc.2014.12.031

By:

Joshi, Sheela;
Shukla, Anju;
Jhala, Rahul Singh

Publication type:

Article

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663

By:

Radhakrishnan, Periyasamy;
Quadri, Neha;
Erger, Florian;
Fuhrmann, Nico;
Geist, Otilia‐Maria;
Netzer, Christian;
Khyriem, Ibakordor;
Muranjan, Mamta;
Udani, Vrajesh;
Yeole, Mayuri;
Mascarenhas, Selinda;
Limaye, Sanket;
Siddiqui, Shahyan;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086

By:

Altunoglu, Umut;
Börklü, Esra;
Shukla, Anju;
Escande‐Beillard, Nathalie;
Ledig, Susanne;
Azaklı, Hülya;
Nayak, Shalini S.;
Eraslan, Serpil;
Girisha, Katta Mohan;
Kennerknecht, Ingo;
Kayserili, Hülya

Publication type:

Article

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

Published in:

Clinical Genetics, 2021, v. 100, n. 2, p. 201, doi. 10.1111/cge.13970

By:

Majethia, Purvi;
Somashekar, Puneeth Hirivate;
Hebbar, Malavika;
Kadavigere, Rajagopal;
Praveen, Balike Krishna;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 594, doi. 10.1111/cge.13928

By:

Somashekar, Puneeth H.;
Kaur, Parneet;
Stephen, Joshi;
Guleria, Vishal Singh;
Kadavigere, Rajagopal;
Girisha, Katta Mohan;
Bielas, Stephanie;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Genetic disorders with central nervous system white matter abnormalities: An update.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 119, doi. 10.1111/cge.13863

By:

Shukla, Anju;
Kaur, Parneet;
Narayanan, Dhanya Lakshmi;
do Rosario, Michelle C.;
Kadavigere, Rajagopal;
Girisha, Katta Mohan

Publication type:

Article

Meckel syndrome: Clinical and mutation profile in six fetuses.

Published in:

Clinical Genetics, 2019, v. 96, n. 6, p. 560, doi. 10.1111/cge.13623

By:

Radhakrishnan, Periyasamy;
Nayak, Shalini S.;
Shukla, Anju;
Lindstrand, Anna;
Girisha, Katta M.

Publication type:

Article

A novel bi‐allelic loss‐of‐function variant in MYOD1: Further evidence for gene‐disease association and phenotypic variability in MYOD1‐related myopathy.

Published in:

Clinical Genetics, 2019, v. 96, n. 3, p. 276, doi. 10.1111/cge.13596

By:

Shukla, Anju;
Narayanan, Dhanya L.;
Asher, Urja;
Girisha, Katta M.

Publication type:

Article

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468

By:

Somashekar, Puneeth H.;
Girisha, Katta M.;
Shukla, Anju;
Lewis, Leslie E. S.;
Shailaja, Shenoy;
Nampoothiri, Sheela;
Gowrishankar, Kalpana;
Devi, Radha R.;
Gupta, Neerja;
Narayanan, Dhanya L.;
Kaur, Anupriya;
Bajaj, Shruti;
Jagadeesh, Sujatha

Publication type:

Article

Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63892

By:

Yeole, Mayuri;
Majethia, Purvi;
Siddiqui, Shahyan;
Girisha, Katta Mohan;
Shukla, Anju;
Radhakrishnan, Periyasamy;
Bhat, Vivekananda

Publication type:

Article

Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63601

By:

Singh, Swati;
Shah, Hitesh;
Dalal, Ashwin;
Shukla, Anju;
Bhavani, Gandham SriLakshmi;
Girisha, Katta M.

Publication type:

Article

c.202_204del in NUP214 causes late onset form of febrile encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529

By:

Farooqui, Sheeba;
Narayanan, Dhanya Lakshmi;
Mascarenhas, Selinda;
do Rosario, Michelle C.;
Nair, Karthik Vijay;
Periyasamy, Radhakrishnan;
Shukla, Anju

Publication type:

Article

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2175, doi. 10.1002/ajmg.a.63330

By:

Pande, Shruti;
Mascarenhas, Selinda;
Venkatraman, Aishwarya;
Bhat, Vivekananda;
Narayanan, Dhanya Lakshmi;
Siddiqui, Shahyan;
Bielas, Stephanie;
Girisha, Katta Mohan;
Shukla, Anju

Publication type:

Article

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067

By:

Nayak, Shalini S.;
Harkness, Robert;
Shukla, Anju;
Banka, Siddharth;
Newman, William G.;
Girisha, Katta M.

Publication type:

Article

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566

By:

Jacob, Prince;
Bhavani, Gandham Sri Lakshmi;
Shah, Hitesh;
Galada, Chelna;
Nampoothiri, Sheela;
Kamath, Nutan;
Phadke, Shubha R.;
Muranjan, Mamta;
Datar, Chaitanya A.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2756, doi. 10.1002/ajmg.a.62186

By:

Pande, Shruti;
Radhakrishnan, Periyasamy;
Shetty, Naveenchandra M.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2951, doi. 10.1002/ajmg.a.61893

By:

Somashekar, Puneeth H.;
Upadhyai, Priyanka;
Narayanan, Dhanya L.;
Kamath, Nutan;
Bajaj, Shruti;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

Bosley–Salih–Alorainy syndrome in patients from India.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2699, doi. 10.1002/ajmg.a.61809

By:

Patil, Siddaramappa J.;
Karthik, Gadabanahalli Ashok;
Bhavani, Gandham SriLakshmi;
Bhat, Venkatraman;
Matalia, Jyoti;
Shah, Jhanvi;
Shukla, Anju;
Girisha, Katta Mohan

Publication type:

Article

Trichothiodystrophy type 4 in an Indian family.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2226, doi. 10.1002/ajmg.a.61794

By:

Pande, Shruti;
Shukla, Anju;
Girisha, Katta Mohan

Publication type:

Article

Burn‐McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1313, doi. 10.1002/ajmg.a.61554

By:

Narayanan, Dhanya L.;
Purushothama, Greeshma;
Bhavani, Gandham SL.;
Shukla, Anju

Publication type:

Article

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 804, doi. 10.1002/ajmg.a.61473

By:

Radhakrishnan, Periyasamy;
Shukla, Anju;
Girisha, Katta M.;
Nayak, Shalini S.

Publication type:

Article

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 338, doi. 10.1002/ajmg.a.61414

By:

Girisha, Katta M.;
Bhavani, Gandham S.;
Shah, Hitesh;
Moirangthem, Amita;
Shukla, Anju;
Kim, Ok‐Hwa;
Nishimura, Gen;
Mortier, Geert R.

Publication type:

Article

Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 183, doi. 10.1002/ajmg.a.61388

By:

Somashekar, Puneeth H.;
Narayanan, Dhanya L.;
Jagadeesh, Sujatha;
Suresh, Beena;
Vaishnavi, Reddy D.;
Bielas, Stephanie;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1709, doi. 10.1002/ajmg.a.61267

By:

Narayanan, Dhanya L.;
Shukla, Anju;
Kausthubham, Neethukrishna;
Bhavani, Gandham S.;
Shah, Hitesh;
Mortier, Geert;
Girisha, Katta M.

Publication type:

Article

Cover Image, Volume 179A, Number 5, May 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. i, doi. 10.1002/ajmg.a.61129

By:

Shukla, Anju;
Girisha, Katta M.;
Somashekar, Puneeth H.;
Nampoothiri, Sheela;
McClellan, Rebecca;
Vernon, Hilary J.

Publication type:

Article

Variants in the transcriptional corepressor BCORL1 are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 870, doi. 10.1002/ajmg.a.61118

By:

Shukla, Anju;
Girisha, Katta M.;
Somashekar, Puneeth H.;
Nampoothiri, Sheela;
McClellan, Rebecca;
Vernon, Hilary J.

Publication type:

Article

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 857, doi. 10.1002/ajmg.a.61103

By:

Kaur, Parneet;
Neethukrishna, Kausthubham;
Kumble, Ali;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

Cornelia de Lange syndrome in diverse populations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033

By:

Dowsett, Leah;
Porras, Antonio R.;
Kruszka, Paul;
Davis, Brandon;
Hu, Tommy;
Honey, Engela;
Badoe, Eben;
Thong, Meow‐Keong;
Leon, Eyby;
Girisha, Katta M.;
Shukla, Anju;
Nayak, Shalini S.;
Shotelersuk, Vorasuk;
Megarbane, Andre;
Phadke, Shubha;
Sirisena, Nirmala D.;
Dissanayake, Vajira H. W.;
Ferreira, Carlos R.;
Kisling, Monisha S.;
Tanpaiboon, Pranoot

Publication type:

Article

A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in <italic>PNPLA8</italic> encoding calcium‐independent phospholipase A2γ.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1232, doi. 10.1002/ajmg.a.38687

By:

Shukla, Anju;
Saneto, Russell P.;
Hebbar, Malavika;
Mirzaa, Ghayda;
Girisha, Katta M.

Publication type:

Article

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 156, doi. 10.1002/ajmg.a.38522

By:

Hebbar, Malavika;
Kanthi, Anil;
Shrikiran, Aroor;
Patil, Snehal;
Muranjan, Mamta;
Francis, Febi;
Bhat B, Vishnu;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 588, doi. 10.1002/ajmg.a.38064

By:

Salian, Smrithi;
Cho, Tae‐Joon;
Phadke, Shubha R.;
Gowrishankar, Kalpana;
Bhavani, Gandham SriLakshmi;
Shukla, Anju;
Jagadeesh, Sujatha;
Kim, Ok‐Hwa;
Nishimura, Gen;
Girisha, Katta M.

Publication type:

Article

Cover Image, Volume 173A, Number 3, March 2017.

Published in:

2017

By:

Salian, Smrithi;
Cho, Tae‐Joon;
Phadke, Shubha R.;
Gowrishankar, Kalpana;
Bhavani, Gandham SriLakshmi;
Shukla, Anju;
Jagadeesh, Sujatha;
Kim, Ok‐Hwa;
Nishimura, Gen;
Girisha, Katta M.

Publication type:

Other

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2998, doi. 10.1002/ajmg.a.37759

By:

Shukla, Anju;
Hebbar, Malavika;
Harms, Frederike L.;
Kadavigere, Rajagopal;
Girisha, Katta M.;
Kutsche, Kerstin

Publication type:

Article

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2486, doi. 10.1002/ajmg.a.37794

By:

Hebbar, Malavika;
Prasada L, Harsha;
Bhowmik, Aneek Das;
Trujillano, Daniel;
Shukla, Anju;
Chakraborti, Shrijeet;
Kandaswamy, Krishna Kumar;
Rolfs, Arndt;
Kamath, Nutan;
Dalal, Ashwin;
Bielas, Stephanie;
Girisha, Katta Mohan

Publication type:

Article

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 410, doi. 10.1002/ajmg.a.37447

By:

Bhavani, Gandham SriLakshmi;
Shah, Hitesh;
Shukla, Anju;
Gupta, Neerja;
Gowrishankar, Kalpana;
Rao, Anand P.;
Kabra, Madhulika;
Agarwal, Meenal;
Ranganath, Prajnya;
Ekbote, Alka V.;
Phadke, Shubha R.;
Kamath, Asha;
Dalal, Ashwin;
Girisha, Katta Mohan

Publication type:

Article

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164

By:

Bhavani, Gandham SriLakshmi;
Shah, Hitesh;
Dalal, Ashwin B.;
Shukla, Anju;
Danda, Sumita;
Aggarwal, Shagun;
Phadke, Shubha R.;
Gupta, Neerja;
Kabra, Madhulika;
Gowrishankar, Kalpana;
Gupta, Anju;
Bhat, Meenakshi;
Puri, Ratna D.;
Bijarnia‐Mahay, Sunita;
Nampoothiri, Sheela;
Mohanasundaram, Kavitha M.;
Rajeswari, S.;
Kulkarni, Akhil M.;
Kulkarni, Muralidhar L.;
Ranganath, Prajnya

Publication type:

Article

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1927, doi. 10.1002/ajmg.a.37116

By:

Shukla, Anju;
Mandal, Kausik;
Patil, Siddaramappa J.;
Kishore, Yougal;
Phadke, Shubha R.;
Girisha, Katta M.

Publication type:

Article

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1482, doi. 10.1002/ajmg.a.36481

By:

Stephen, Joshi;
Shukla, Anju;
Dalal, Ashwin;
Girisha, Katta Mohan;
Shah, Hitesh;
Gupta, Neerja;
Kabra, Madhulika;
Dabadghao, Preeti;
Phadke, Shubha R.

Publication type:

Article

Urinary myiasis by Psychoda albipennis.

Published in:

2024

By:

Siddiqui, Areena H.;
Shukla, Anju

Publication type:

Letter