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Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

Brain (London, England : 1878), 2002-06, Vol.125 (Pt 6), p.1320-1325

2002

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Protein analysis of the plaques in congenital cataracts

Acta ophthalmologica (Oxford, England), 2017-09, Vol.95 (S259), p.n/a

2017

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Neurology, 2002-12, Vol.59 (12), p.1865-1872

2002

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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

Neurology, 2004-03, Vol.62 (6), p.1001-1002

2004

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Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3

Journal of medical genetics, 2004-03, Vol.41 (3), p.193-197

2004

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Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

American journal of human genetics, 2003-03, Vol.72 (3), p.722-727

2003

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Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

Neurology, 2004-05, Vol.62 (9), p.1522-1525

2004

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Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

American journal of human genetics, 2003-10, Vol.73 (4), p.926-932

2003

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A Rapid Method for Simultaneous Detection of Phenotypic Resistance to Inhibitors of Protease and Reverse Transcriptase in Recombinant Human Immunodeficiency Virus Type 1 Isolates from Patients Treated with Antiretroviral Drugs

Antimicrobial Agents and Chemotherapy, 1998-02, Vol.42 (2), p.269-276

1998

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A natural language processing approach to uncover patterns among online ratings of otolaryngologists

Journal of laryngology and otology, 2023-12, Vol.137 (12), p.1384-1388

2023

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Gynecologic cancers in pregnancy: guidelines based on a third international consensus meeting

Annals of oncology, 2019-10, Vol.30 (10), p.1601-1612

2019

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Microbial interactions among Gardnerella, Prevotella and Fannyhessea prior to incident bacterial vaginosis: protocol for a prospective, observational study

BMJ open, 2024-02, Vol.14 (2), p.e083516-e083516

2024

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Patient-reported outcomes following total thyroidectomy and lobectomy in thyroid cancer survivors: an analysis of the PROFILES Registry data

Supportive care in cancer, 2022, Vol.30 (1), p.687-693

2022

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O15.2 ‘It’s behaviors; It’s not identity’: Attitudes Related to HIV Risk and Pre-Exposure Prophylaxis Among Transgender Women in the Southeastern US

Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A50-A51

2021

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ESMO Expert Consensus Statements on the management of breast cancer during pregnancy (PrBC)

Annals of oncology, 2023-10, Vol.34 (10), p.849-866

2023

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Severe Adverse Reaction to Vemurafenib in a Pregnant Woman with Metastatic Melanoma

Case reports in oncology, 2018-02, Vol.11 (1), p.119-124

2018

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The Role of Prevotella Species in Female Genital Tract Infections

Pathogens (Basel), 2024-04, Vol.13 (5), p.364

2024

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Quaternary structure of the human Cdt1-Geminin complex regulates DNA replication licensing

Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (47), p.19807-19812

2009

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Efficacy and Safety of Outpatient Treatment Based on the Hestia Clinical Decision Rule with or without N-Terminal Pro-Brain Natriuretic Peptide Testing in Patients with Acute Pulmonary Embolism. A Randomized Clinical Trial

American journal of respiratory and critical care medicine, 2016-10, Vol.194 (8), p.998-1006

2016

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The impact of cancer and chemotherapy during pregnancy on child neurodevelopment: A multimodal neuroimaging analysis

EClinicalMedicine, 2020-11, Vol.28, p.100598-100598, Article 100598

2020

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Pathologic Characteristics and Surgical Outcomes of Pediatric Versus Adult Well-Differentiated Thyroid Cancer

Otolaryngology-head and neck surgery, 2024-10

2024

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Molecular and functional characterization of kshA and kshB, encoding two components of 3‐ketosteroid 9α‐hydroxylase, a class IA monooxygenase, in Rhodococcus erythropolis strain SQ1

Molecular microbiology, 2002-08, Vol.45 (4), p.1007-1018

2002

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Proteomic pathways to metabolic disease and type 2 diabetes in the pancreatic islet

iScience, 2024-01, Vol.27 (1), p.108707, Article 108707

2024

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Proteomic pathways to metabolic disease and type 2 diabetes in the pancreatic islet

iScience, 2021-10, Vol.24 (10), p.103099, Article 103099

2021

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Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

Protein analysis of the plaques in congenital cataracts

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

A Rapid Method for Simultaneous Detection of Phenotypic Resistance to Inhibitors of Protease and Reverse Transcriptase in Recombinant Human Immunodeficiency Virus Type 1 Isolates from Patients Treated with Antiretroviral Drugs

A natural language processing approach to uncover patterns among online ratings of otolaryngologists

Gynecologic cancers in pregnancy: guidelines based on a third international consensus meeting

Microbial interactions among Gardnerella, Prevotella and Fannyhessea prior to incident bacterial vaginosis: protocol for a prospective, observational study

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Patient-reported outcomes following total thyroidectomy and lobectomy in thyroid cancer survivors: an analysis of the PROFILES Registry data

O15.2 ‘It’s behaviors; It’s not identity’: Attitudes Related to HIV Risk and Pre-Exposure Prophylaxis Among Transgender Women in the Southeastern US

ESMO Expert Consensus Statements on the management of breast cancer during pregnancy (PrBC)

Severe Adverse Reaction to Vemurafenib in a Pregnant Woman with Metastatic Melanoma

The Role of Prevotella Species in Female Genital Tract Infections

Quaternary structure of the human Cdt1-Geminin complex regulates DNA replication licensing

Efficacy and Safety of Outpatient Treatment Based on the Hestia Clinical Decision Rule with or without N-Terminal Pro-Brain Natriuretic Peptide Testing in Patients with Acute Pulmonary Embolism. A Randomized Clinical Trial

The impact of cancer and chemotherapy during pregnancy on child neurodevelopment: A multimodal neuroimaging analysis

Pathologic Characteristics and Surgical Outcomes of Pediatric Versus Adult Well-Differentiated Thyroid Cancer

Molecular and functional characterization of kshA and kshB, encoding two components of 3‐ketosteroid 9α‐hydroxylase, a class IA monooxygenase, in Rhodococcus erythropolis strain SQ1

Proteomic pathways to metabolic disease and type 2 diabetes in the pancreatic islet

Proteomic pathways to metabolic disease and type 2 diabetes in the pancreatic islet

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