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Phillis Lakeman

Showing results (21-30 of 51) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorderEileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Molecular Genetics & Genomic Medicine|November 29, 2018
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variantEline Overwater, Rifka Efrat, Daniela Q C M Barge-Schaapveld, et al.
Prenatal Diagnosis|June 23, 2022
Views of patients and parents of children with genetic disorders on population-based expanded carrier screeningAnke J Woudstra, Lieke M van den Heuvel, Elsbeth H van Vliet-Lachotzki, et al.
Nephron|March 6, 2024
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First ApproachGerrit van den Berg, Laura R Claus, Bert van der Zwaag, et al.
Journal of Genetic Counseling|October 6, 2017
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative StudyKim C A Holtkamp, Phillis Lakeman, Hind Hader, et al.
European Journal of Pediatrics|September 16, 2011
Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literatureMaurike D de Groot-van der Mooren, Monique C Haak, Phillis Lakeman, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder populationInge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, et al.
Genetic Testing|April 1, 2008
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screeningPhillis Lakeman, Johan J P Gille, Jeannette E Dankert-Roelse, et al.
Family Practice|February 1, 2023
Primary care professionals' views on population-based expanded carrier screening: an online focus group studyLieke M van den Heuvel, Anke J Woudstra, Sanne van der Hout, et al.
European Journal of Medical Genetics|February 3, 2015
Targeted carrier screening for four recessive disorders: high detection rate within a founder populationInge B Mathijssen, Lidewij Henneman, Janneke M C van Eeten-Nijman, et al.
Pageof 6

Showing results (21-30 of 51) with videos related to

Sort By:
Pageof 6
Cold Spring Harbor Molecular Case Studies|October 27, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorderEileen G Daniels, Marielle Alders, Marco Lezzerini, et al.
Molecular Genetics & Genomic Medicine|November 29, 2018
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variantEline Overwater, Rifka Efrat, Daniela Q C M Barge-Schaapveld, et al.
Prenatal Diagnosis|June 23, 2022
Views of patients and parents of children with genetic disorders on population-based expanded carrier screeningAnke J Woudstra, Lieke M van den Heuvel, Elsbeth H van Vliet-Lachotzki, et al.
Nephron|March 6, 2024
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First ApproachGerrit van den Berg, Laura R Claus, Bert van der Zwaag, et al.
Journal of Genetic Counseling|October 6, 2017
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative StudyKim C A Holtkamp, Phillis Lakeman, Hind Hader, et al.
European Journal of Pediatrics|September 16, 2011
Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literatureMaurike D de Groot-van der Mooren, Monique C Haak, Phillis Lakeman, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder populationInge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, et al.
Genetic Testing|April 1, 2008
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screeningPhillis Lakeman, Johan J P Gille, Jeannette E Dankert-Roelse, et al.
Family Practice|February 1, 2023
Primary care professionals' views on population-based expanded carrier screening: an online focus group studyLieke M van den Heuvel, Anke J Woudstra, Sanne van der Hout, et al.
European Journal of Medical Genetics|February 3, 2015
Targeted carrier screening for four recessive disorders: high detection rate within a founder populationInge B Mathijssen, Lidewij Henneman, Janneke M C van Eeten-Nijman, et al.
Pageof 6