الرئيسية › دليل الباحثين › Ilham Ratbi
Ilham Ratbi
الانتماء : Mohammed V University · Institut National d'Hygiène du Maroc · Université Mohammed VI des Sciences et de la Santé · Centre Hospitalier Ibn Sina
- 76منشورات (انتماء مغربي)
- 95مجموع المنشورات
- 1510الاستشهادات
- 20مؤشر h
الملف البحثي
لدى Ilham Ratbi 76 منشور(ات) مفهرسة (2005–2026). تُنشر أعماله أساسًا في «Genetic Testing and Molecular Biomarkers»، «Annales de Dermatologie et de Vénéréologie» و«Journal of Medical Case Reports». أكثر مقالاته استشهادًا هو «A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence» (2013)، وقد استُشهد به 179 مرة. 12 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا، ألمانيا.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
المنشورات (76)
- Biologic and Molecular Integrative Approach for the Diagnosis of Hemoglobinopathies
- Exploring the healthcare pathway experiences and quality of life of Moroccan children living with rare diseases
- Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing
- Genetic Landscape of NAT2 in the Moroccan Population: Implications for Isoniazid Pharmacogenetics in Tuberculosis
- First Report of TTR Gene Variants in Moroccan Patients with Cardiac Amyloidosis: Implications for Diagnosis and Family Screening
- Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan–Tunisian Delphi Study
- Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
- Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant
- First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report
- Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
- Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review
- High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
- Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report
- Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
- Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
- PCR249 Quality of Life of Moroccan Children with Rare Diseases: Evidence from Real-World Data
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region
- Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
- Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature
- Complex translocation leading to13q interstitial deletion in a Moroccan child with retinoblastoma and intellectual disability
- Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
- Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
- Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
- Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
- Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
- Deciphering the natural history of SCA7 in children
- Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations
- Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Diagnostic moléculaire des mutations récurrentes des gènes XPC et XPA chez les patients marocains atteints de xeroderma pigmentosum
- First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report
- Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
- High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control
- Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
- Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
- GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
- Non lethal Raine syndrome and differential diagnosis
- Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
- First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
- Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene
- NAT2 Genotypes in Moroccan Patients with Hepatotoxicity Due to Antituberculosis Drugs
- Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.
- Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
- The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
- Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
- Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1variants in Moroccan population
- Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population
- Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer
- Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
- A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence
- Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
- Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome
- Marfan syndrome and cervical internal carotid artery aneurysm
- Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature
- Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients
- Low Prevalence of p.G352fsdelG Mutation in Phenylketonuria Patients from Morocco
- Estimation de la prévalence de la mutation p.G352fsdelG du gène PAH de la phénylcétonurie au Maroc
- La fibromatose hyaline juvénile : une nouvelle observation
- Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns
- A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
- L’amyotrophie spinale infantile : cause fréquente des hypotonies congénitales au Maroc
- Moroccan consanguineous family with Becker myotonia and review
- Fistules congénitales de la lèvre inférieure
- Familial Gliomas: Role of TP53 Gene
- Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents
- Severe form of hypoglossia–hypodactylia syndrome associated with complex cardiopathy: A case report
- La mucoviscidose au Maroc, mais où sont passés les malades?
- Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
- Microdélétion 22q11.2 révélée par une hypocalcémie néonatale avec une dysmorphie faciale mineure
- Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco
- The moroccan human mutation database
- La mutation 35delG du gène de la connexine 26, une cause fréquente des surdités non syndromiques autosomiques récessives au Maroc
- Mowat-Wilson syndrome in a Moroccan consanguineous family
- L'Angine de la mononucléose infectieuse: Un piège diagnostique pour l'anatomopathologiste
مجلات النشر
- Genetic Testing and Molecular Biomarkers × 4
- Annales de Dermatologie et de Vénéréologie × 3
- Journal of Medical Case Reports × 3
- Indian journal of human genetics × 3
- Molecular Syndromology × 2
- Gene Reports × 2
المنشورات حسب السنة
- 20265
- 20251
- 20246
- 20235
- 20224
- 20215
- 20202
- 20193
- 20181
- 20175
التعاون العلمي
المؤسسات الشريكة : Inserm · Centre Hospitalier Universitaire Hassan II · Université de Picardie Jules Verne · Centre Hospitalier Universitaire Henri-Mondor · Assistance Publique – Hôpitaux de Paris
بلدان المؤلفين المشاركين : فرنسا · ألمانيا
المؤلفون المشاركون
- Abdelaziz Sefiani
- Jaber Lyahyai
- Siham Chafai Elalaoui
- Fatima Zahra Laarabi
- Najlae Adadi
- Imane Cherkaoui Jaouad
- Youssef El Kadiri
- Aziza Sbiti
- Soukaina Guaoua
- Abdelhafid Natiq
- Karim Ouldim
- Yasmina Rahmuni
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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