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Clinical Genetics
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December 10, 2025
Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions
Jean-Louis Blouin, Claudine Rieubland, Thierry Nouspikel
BMC Endocrine Disorders
|
October 20, 2023
Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report
Fanny Luterbacher, Jean-Louis Blouin, Valerie M Schwitzgebel
American Journal of Medical Genetics. Part A
|
February 5, 2003
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
Siv Fokstuen, Stylianos E Antonarakis, Jean-Louis Blouin
Swiss Medical Weekly
|
November 10, 2017
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, et al.
BMJ Case Reports
|
May 2, 2024
Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations
Ariane Paoloni-Giacobino, Jean-Louis Blouin, Thierry Nouspikel, et al.
Anesthesiology
|
March 31, 2006
beta2-adrenoceptor genotype affects vasopressor requirements during spinal anesthesia for cesarean delivery
Richard M Smiley, Jean-Louis Blouin, Maria Negron, et al.
Anesthesia and Analgesia
|
January 11, 2013
The effect of OPRM1 and COMT genotypes on the analgesic response to intravenous fentanyl labor analgesia
Ruth Landau, Shih-Kai Liu, Jean-Louis Blouin, et al.
Analytical Biochemistry
|
November 16, 2017
Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory
Sergey Nikolaev, Laure Lemmens, Thibaud Koessler, et al.
Italian Journal of Pediatrics
|
February 1, 2015
Pure interstitial dup(6)(q22.31q22.31) - a case report
Frenny Sheth, Sunil Trivedi, Joris Andrieux, et al.
Human Reproduction (Oxford, England)
|
February 7, 2003
Is genetic analysis useful in the routine management of hydatidiform mole?
Patrick Petignat, Marie-Hélène Billieux, Jean-Louis Blouin, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 61) with videos related to
Sort By:
Page
of 7
Clinical Genetics
|
December 10, 2025
Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions
Jean-Louis Blouin, Claudine Rieubland, Thierry Nouspikel
BMC Endocrine Disorders
|
October 20, 2023
Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report
Fanny Luterbacher, Jean-Louis Blouin, Valerie M Schwitzgebel
American Journal of Medical Genetics. Part A
|
February 5, 2003
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
Siv Fokstuen, Stylianos E Antonarakis, Jean-Louis Blouin
Swiss Medical Weekly
|
November 10, 2017
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, et al.
BMJ Case Reports
|
May 2, 2024
Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations
Ariane Paoloni-Giacobino, Jean-Louis Blouin, Thierry Nouspikel, et al.
Anesthesiology
|
March 31, 2006
beta2-adrenoceptor genotype affects vasopressor requirements during spinal anesthesia for cesarean delivery
Richard M Smiley, Jean-Louis Blouin, Maria Negron, et al.
Anesthesia and Analgesia
|
January 11, 2013
The effect of OPRM1 and COMT genotypes on the analgesic response to intravenous fentanyl labor analgesia
Ruth Landau, Shih-Kai Liu, Jean-Louis Blouin, et al.
Analytical Biochemistry
|
November 16, 2017
Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory
Sergey Nikolaev, Laure Lemmens, Thibaud Koessler, et al.
Italian Journal of Pediatrics
|
February 1, 2015
Pure interstitial dup(6)(q22.31q22.31) - a case report
Frenny Sheth, Sunil Trivedi, Joris Andrieux, et al.
Human Reproduction (Oxford, England)
|
February 7, 2003
Is genetic analysis useful in the routine management of hydatidiform mole?
Patrick Petignat, Marie-Hélène Billieux, Jean-Louis Blouin, et al.
Page
of 7