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Neurofibromatosis type I
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
An Unusual Case of Cowden Syndrome Associated With
Cutaneous Findings in Neurofibromatosis Type 1
Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current Trends in Diagnosis and Management with a Focus on Novel Medical Therapies
Case Report Neurofibromatosis Type I in Children: a Case Report and Literature Review
Clinical and Genetic Patterns Ofneurofibromatosis 1 and 2
Neurocutaneous Syndromes Maria A
Neurofibromatosis Type 1
Neurofibromatosis Type 1
Klippel-Trenaunay Syndrome with Extensive Lymphangiomas
Genes for Stroke
Comprehensive Testing for NF1/SPRED1 and Other Rasopathies Genes at UAB
Peripheral and Central Giant Cell Lesions
Care of Adults with Neurofibromatosis Type 1: a Clinical Practice Resource of the American College of Medical Genetics and Genomics (ACMG)
Mimics of Primary Systemic Vasculitides
Case Report Café Au Lait Spots: What Is the Diagnosis If It Is Not Neurofibromatosis Type I ?
Monogenic Forms of Hypertension
Cafe-Au-Lait Spots As a Clinical Sign of Syndromes Manchas Café-Com-Leite Como Um Sinal Clínico De Síndromes Manchas Café Con Leche Como Signo Clínico De Síndromes
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CTGT Req Form 07302018.Pdf
Differential Diagnoses of Overgrowth Syndromes: the Most Important Clinical and Radiological Disease Manifestations
Blueprint Genetics Neurofibromatosis Panel
Central Giant Cell Granuloma: Uncommon Yet Important
18 Review Article Sougatul Islam
Genetic Syndromes
Von Recklinghausen Disease): a Case Report and Review of the Literature
Impact of Cognitive Distortions and Perceived Stigmatization on Acceptance Among Adults with Neurofibromatosis Type 1 Shanna C
Multiple Osteolytic Lesions of the Jaws in a Patient with Neurofibromatosis
Giant Cell Granuloma: Report of a Rare Location in the Hard Palate and Review of the Literature
The NF1 Gene in Tumor Syndromes and Melanoma Maija Kiuru1 and Klaus J Busam2
Multiple Endocrine Neoplasia Syndromes Glenda G
Tumor Microenvironment and Neurofibromatosis Type I
Vascular Malformations: MSK
One NF1 Mutation May Conceal Another
Parkes Weber Syndrome, Vein of Galen Aneurysmal Malformation, and Other Fast-Flow Vascular Anomalies Are Caused by RASA1 Mutations
Association Between Neurofibromatosis Type I And
Mutation Screening of the PTEN Gene in Patients with Autism Spectrum Disorders and Macrocephaly
Type I Neurofibromatosis: 1
Neurofibromatosis Type 1 with Cherubism-Like Phenotype, Multiple
Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
Clinical and Genetic Aspects of Neurofibromatosis 1 Kimberly Jett, Bsc1, and Jan M
Common Variants in Mendelian Kidney Disorder Genes and Their Association with Renal Function And
Neurofibromatosis Type I Or Von Recklinghausen's Disease
Diagnostic Aspects of Magnetic Resonance Imaging
Rare Neurovascular Diseases in Korea: Classification and Related
The Phakomatoses
Parkes Weber Syndrome, Vein of Galen Aneurysmal Malformation, and Other Fast-Flow Vascular Anomalies Are Caused by RASA1 Mutations
Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin
Phs001516.V1.P1 OMIM ID
Pharmacological Approaches in Neurofibromatosis Type 1
Analysis of Prevalence and Degree of Macrocephaly in Patients with Germline PTEN Mutations and of Brain Weight in Pten Knock-In Murine Model
Cardiac and Vascular Functions of the Zebrafish Orthologues of the Type I Neurofibromatosis Gene NFI
Leistungsverzeichnis Der Sektion Pädiatrische Genetik Der Universitätskinderklinik Freiburg, Mathildenstr
RAS-MAPK Syndromes
Fed Pract. 2020;37(Suppl 4):S82-S88. Doi:10.12788/Fp.0033 1 APC Familial Adenomatous Polyposis-1 AD Predisposition to Cancer
Hereditary Neurological Tumor Syndromes: Clues to Glioma Oncogenesis?
Genetics of Cerebral Small Vessel Disease
Comprehensive Cardiology Precision Panel Overview Indications
OMIM Mendelian Gene List V2.0
Patient History for Neurofibromatosis Type 1/ Legius Syndrome
Mendelian Disorders Among Jews
Disease ID Disorder Name Gene Symbols OMIM ID