Iniencephaly in a live born and not Klippel Feil syndrome

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Clinical genetics·2018

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy.

Indian journal of nephrology·2016

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.

Journal of postgraduate medicine·2016

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Clinical genetics·2016

The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss.

Placenta·2014

Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

Indian pediatrics·2012

Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.

Indian pediatrics·2026

Teamwork Attitudes and Perceptions Following Team-Based Learning in Undergraduate Medical Students: An Educational Evaluation.

Indian pediatrics·2026

Comparative Proteomics Analysis of Serum Exosomes Reveals Distinct Infection Profiles and Potential Biomarkers for Pediatric Tuberculosis.

Indian pediatrics·2026

Music Therapy for Well-being in the Growing Years.

Indian pediatrics·2026

Oral Zinc Supplementation as an Adjunct to Standard Therapy in Children with Steroid-Sensitive Nephrotic Syndrome: A Double-Blind Randomized Controlled Trial.

Indian pediatrics·2026

Comparative Efficacy, Safety, and Cost of Different Intrapleural Fibrinolytic Agents for the Management of Empyema Thoracis in Children: A Systematic Review.

Indian pediatrics·2026

Non-bifurcating cervical carotid artery with ipsilateral internal carotid artery hypoplasia.

Surgical and radiologic anatomy : SRA·2026

Correction: When migrants do not speak the host country's language but need mental health care: A protocol for developing a communication intervention.

PloS one·2026

How the unvaccinated have been portrayed in the urban English-language Canadian popular press since the declared end of the COVID-19 pandemic emergency.

Human vaccines & immunotherapeutics·2026

Automatic speech recognition underperforms with diverse accents as measured by Word Error Rate and a semantic similarity measure.

Disability and rehabilitation. Assistive technology·2026

Weber Classification Does Not Correlate with PROMIS Outcome Measures.

Foot & ankle orthopaedics·2026

LEXF-ATT-XLM: A hybrid lexicon-enhanced attention model for hate speech detection in low-resource language Roman Urdu.

PloS one·2026

Related Experiment Videos

Iniencephaly in a live born and not Klippel Feil syndrome

Related Concept Videos

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy.

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss.

Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.

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Non-bifurcating cervical carotid artery with ipsilateral internal carotid artery hypoplasia.

Correction: When migrants do not speak the host country's language but need mental health care: A protocol for developing a communication intervention.

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Iniencephaly in a live born and not Klippel Feil syndrome

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