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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

American journal of human genetics, 2018-09, Vol.103 (3), p.413-420

2018

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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819

2008

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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

American journal of human genetics, 2011-09, Vol.89 (3), p.415-423

2011

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Dravet Syndrome: A Rare Form of Epilepsy

Case reports in medicine, 2024-07, Vol.2024 (1), p.6710512

2024

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A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance

Case reports in medicine, 2024-04, Vol.2024, p.2435938-7

2024

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A Young Woman with Common Variable Immunodeficiency: The Role of Thorough Medical History and Physical Examination in Accurate Diagnosis

Case reports in medicine, 2024-05, Vol.2024, p.4028888-3

2024

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Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder

Case reports in medicine, 2024-01, Vol.2024, p.5319443-3

2024

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De l’intérêt de partenariats autour du bassin méditerranéen pour les maladies rares

La Presse médicale (1983), 2012-05, Vol.41, p.S51-S54

MEGARBANE, André

2012

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DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Case reports in medicine, 2023-04, Vol.2023, p.8436715-5

2023

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Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female

Case reports in medicine, 2023-04, Vol.2023, p.8872346-4

2023

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.29-29

2011

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Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

American journal of human genetics, 2007-10, Vol.81 (4), p.821-828

2007

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Hallermann–Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction

Case reports in medicine, 2022-12, Vol.2022, p.1520880-3

2022

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Acute Pancreatitis in Individuals with COVID-19: A Case Report and Critical Review of Literature

Case reports in medicine, 2022-06, Vol.2022, p.1-3

2022

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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

Case reports in medicine, 2022-05, Vol.2022, p.7492077-3

2022

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15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation

Case reports in medicine, 2021-05, Vol.2021, p.6662054-9

2021

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Primary Multifocal Recurrent Urinary Bladder Amyloidosis: A Rare Case Report from Syria

Case reports in medicine, 2021-10, Vol.2021, p.1-3

2021

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

American journal of human genetics, 2011-07, Vol.89 (1), p.7-14

2011

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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Human molecular genetics, 2006-03, Vol.15 (5), p.767-776

2006

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Dengue Infection and Its Relationship with Evans Syndrome: A Pediatric Case

Case reports in medicine, 2021-08, Vol.2021, p.8635585-4

2021

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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

Case reports in medicine, 2020, Vol.2020 (2020), p.1-6

2020

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Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

American journal of human genetics, 2007-07, Vol.81 (1), p.1-16

2007

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Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

European journal of endocrinology, 2013-01, Vol.168 (1), p.K1-K7

2013

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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

Neurogenetics, 2022-04, Vol.23 (2), p.85-90

2022

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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

The Journal of clinical investigation, 2015-11, Vol.125 (11), p.4196-4211

2015

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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Dravet Syndrome: A Rare Form of Epilepsy

A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance

A Young Woman with Common Variable Immunodeficiency: The Role of Thorough Medical History and Physical Examination in Accurate Diagnosis

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder

De l’intérêt de partenariats autour du bassin méditerranéen pour les maladies rares

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Hallermann–Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction

Acute Pancreatitis in Individuals with COVID-19: A Case Report and Critical Review of Literature

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation

Primary Multifocal Recurrent Urinary Bladder Amyloidosis: A Rare Case Report from Syria

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Dengue Infection and Its Relationship with Evans Syndrome: A Pediatric Case

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

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