Found: 42
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Effect of a Single Dose of Sodium Bicarbonate Given during Neonatal Resuscitation at Birth on the Acid-Base Status on First Day of Life.
- Published in:
- Journal of Perinatology, 2004, v. 24, n. 11, p. 696, doi. 10.1038/sj.jp.7211192
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- Publication type:
- Article
Case series on silvery hair syndromes: Single center experience.
- Published in:
- Indian Journal of Dermatology, 2022, v. 67, n. 2, p. 164, doi. 10.4103/ijd.IJD_723_20
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- Publication type:
- Article
Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 5, p. 401, doi. 10.1007/s13312-022-2522-5
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- Publication type:
- Article
Research Letters.
- Published in:
- 2021
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- Publication type:
- Letter
Charcoal Hemoperfusion for Phenytoin Intoxication.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Pompe disease- experience from South India.
- Published in:
- 2013
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- Publication type:
- Abstract
Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 10, p. 7467, doi. 10.1007/s11033-020-05803-x
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- Publication type:
- Article
Persistent craniopharyngeal canal: A rare cause for recurrent meningitis in pediatric population.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 4, p. 545, doi. 10.4103/aian.AIAN_411_18
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- Publication type:
- Article
Identification and in Silico characterization of a novel CASK c.2546T>C (p.V849A) mutation in a male infant with pontocerebellar hypoplasia.
- Published in:
- 2019
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- Publication type:
- Case Study
An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 3, p. 327, doi. 10.4103/aian.AIAN_191_18
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- Publication type:
- Article
Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 2, p. 231, doi. 10.4103/aian.AIAN_430_17
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- Publication type:
- Article
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.
- Published in:
- 2016
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- Publication type:
- Case Study
Congenital muscular dystrophy with inflammation: Diagnostic considerations.
- Published in:
- Annals of Indian Academy of Neurology, 2016, v. 19, n. 3, p. 356, doi. 10.4103/0972-2327.186814
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- Publication type:
- Article
Regression of milestones in two children secondary to a treatable pathology.
- Published in:
- 2008
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- Publication type:
- Case Study
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 1972, doi. 10.1002/acn3.51884
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- Publication type:
- Article
Neurocognitive Profile and <sup>18</sup> F-Fluorodeoxyglucose Positron Emission Tomography Brain Imaging Correlation in Children with Electrical Status Epilepticus during Sleep.
- Published in:
- World Journal of Nuclear Medicine, 2023, v. 22, n. 3, p. 174, doi. 10.1055/s-0042-1757284
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- Publication type:
- Article
A novel splice variant in <italic>EMC1</italic> is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 282, doi. 10.1002/mgg3.352
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- Publication type:
- Article
Endoscopic Trans-Aqueductal Procedures for Juxta 4th Ventricular and Posterior Fossa Arachnoid Cyst using Flexible/Video Neuroendoscope: A Novel Approach.
- Published in:
- Asian Journal of Neurosurgery, 2023, v. 18, n. 1, p. 62, doi. 10.1055/s-0043-1760858
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- Publication type:
- Article
Systemic Wangiella dermatitidis infection presenting as liver mass and obstructive cholangiopathy.
- Published in:
- Tropical Gastroenterology, 2013, v. 34, n. 4, p. 277
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- Publication type:
- Article
Cryptogenic posterior circulation stroke in children.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 6, p. 847, doi. 10.1111/dmcn.15462
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- Publication type:
- Article
Lingappa et al. reply.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 699, doi. 10.1111/dmcn.12451
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- Publication type:
- Article
Mineralizing angiopathy with infantile basal ganglia stroke after minor trauma.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 1, p. 78, doi. 10.1111/dmcn.12275
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- Publication type:
- Article
Association of Child Neurology-Indian Epilepsy Society Consensus Document on Parental Counseling of Children with Epilepsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
- Published in:
- 2016
- By:
- Publication type:
- case study
Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation.
- Published in:
- Indian Journal of Pediatrics, 2012, v. 79, n. 11, p. 1526, doi. 10.1007/s12098-012-0789-6
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- Publication type:
- Article
Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia.
- Published in:
- 2022
- By:
- Publication type:
- case study
Michels syndrome: The first case report from India and review of literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Ten‐year outcome in disseminated juvenile xanthogranuloma with central nervous system involvement: A case report.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 4, p. 1, doi. 10.1002/pbc.29448
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- Publication type:
- Article
Identification of Preventable Risk Factors for Developmental Delay in Children: A Pilot Study.
- Published in:
- Annals of Child Neurology, 2023, v. 31, n. 2, p. 97, doi. 10.26815/acn.2022.00416
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- Publication type:
- Article
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880
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- Publication type:
- Article
KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 4, p. 679, doi. 10.1111/epi.16480
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- Publication type:
- Article
Ictal FDGPET and SPECT in hemifacial seizures due to cerebellar epilepsy-Case report.
- Published in:
- 2019
- By:
- Publication type:
- case study
Parent-Reported Visual Concerns in Children with Cerebral Visual Impairment Presenting to a Pediatric Neurology Clinic.
- Published in:
- Clinical Optometry, 2023, v. 15, p. 147, doi. 10.2147/OPTO.S410903
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- Publication type:
- Article
Case Report: Survival from Rabies: Case Series from India.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2019, v. 100, n. 1, p. 165, doi. 10.4269/ajtmh.18-0711
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- Publication type:
- Article
Nonconvulsive Status Epilepticus in Children with Acute Encephalopathy: A Prospective Observational Study.
- Published in:
- Journal of Pediatric Neurosciences, 2023, v. 18, p. 11, doi. 10.4103/jpn.JPN_60_21
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- Publication type:
- Article
Clinical Profile, Yield of Cartridge-based Nucleic Acid Amplification Test (GeneXpert), and Outcome in Children with Tubercular Meningitis.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 224, doi. 10.4103/jpn.JPN_92_19
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- Publication type:
- Article
Rare clinical presentation of diffuse large B-cell lymphoma as otitis media and facial palsy.
- Published in:
- Journal of Pediatric Neurosciences, 2016, v. 11, n. 1, p. 58, doi. 10.4103/1817-1745.181252
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- Publication type:
- Article
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 609, doi. 10.1111/cge.14271
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- Publication type:
- Article
A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 744, doi. 10.1111/cge.13934
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- Publication type:
- Article
Juvenile idiopathic inflammatory myopathies: A clinicopathological study with emphasis on muscle histology.
- Published in:
- 2019
- By:
- Publication type:
- journal article