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Publications by J FABER

Clinical Variability of Stickler Syndrome With a COL2A1 Haploinsufficiency Mutation: Implications for Genetic Counselling

Journal of Medical Genetics
Genetics
2000English

Discussion. Elephant and Castle Shopping Centre.

Proceedings of the Institution of Civil Engineers
1967English

Related publications

Stickler Syndrome

2020English

Fanconi Anaemia,BRCA2mutations and Childhood Cancer: A Developmental Perspective From Clinical and Epidemiological Observations With Implications for Genetic Counselling

Journal of Medical Genetics
Genetics
2013English

Genetic Variability of Pain Perception and Treatment—clinical Pharmacological Implications

European Journal of Clinical Pharmacology
MedicinePharmacology
2011English

Risk Assessment and Psychological Implications of Genetic Counselling

International Journal of Human Genetics
Genetics
2019English

De Novo Deletions in Spinal Muscular Atrophy: Implications for Genetic Counselling.

Journal of Medical Genetics
Genetics
1997English

Haploinsufficiency of TNFAIP3 ( A20 ) by Germline Mutation Is Involved in Autoimmune Lymphoproliferative Syndrome

Journal of Allergy and Clinical Immunology
AllergyImmunology
2017English

Genetic Counselling

Journal of Medical Genetics
Genetics
1971English

Genetic Counselling.

BMJ
1972English

Genetic Counselling.

BMJ
1972English

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