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European Journal of Medical Genetics
|
September 24, 2005
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype
Joris Robert Vermeesch, Cindy Melotte, Ivo Salden, et al.
American Journal of Medical Genetics. Part A
|
June 10, 2005
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
Michael Weinstein, Els Schollen, Gert Matthijs, et al.
Journal of Clinical Laboratory Analysis
|
July 12, 2022
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia
Gloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
Mediterranean Journal of Hematology and Infectious Diseases
|
January 20, 2025
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes
Mamy Ngole, Gloire Mbayabo, Paul Lumbala, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships
Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, et al.
Human Mutation
|
August 25, 2009
RFT1 deficiency in three novel CDG patients
Wendy Vleugels, Micha A Haeuptle, Bobby G Ng, et al.
Iscience
|
April 23, 2021
Aberrant sialylation in a patient with a <i>HNF1α</i> variant and liver adenomatosis
Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, et al.
Human Mutation
|
December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Page
of 20
Search research articles
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Showing results (141-150 of 199) with videos related to
Sort By:
Page
of 20
European Journal of Medical Genetics
|
September 24, 2005
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype
Joris Robert Vermeesch, Cindy Melotte, Ivo Salden, et al.
American Journal of Medical Genetics. Part A
|
June 10, 2005
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
Michael Weinstein, Els Schollen, Gert Matthijs, et al.
Journal of Clinical Laboratory Analysis
|
July 12, 2022
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia
Gloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
Guidelines for diagnostic next-generation sequencing
Gert Matthijs, Erika Souche, Mariëlle Alders, et al.
Mediterranean Journal of Hematology and Infectious Diseases
|
January 20, 2025
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes
Mamy Ngole, Gloire Mbayabo, Paul Lumbala, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships
Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, et al.
Human Mutation
|
August 25, 2009
RFT1 deficiency in three novel CDG patients
Wendy Vleugels, Micha A Haeuptle, Bobby G Ng, et al.
Iscience
|
April 23, 2021
Aberrant sialylation in a patient with a <i>HNF1α</i> variant and liver adenomatosis
Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, et al.
Human Mutation
|
December 18, 2004
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, et al.
Page
of 20