Search research articles
Contact Us
Filters
Showing results (281-290 of 347) with videos related to
Page
of 35
Sort By:
American Journal of Medical Genetics. Part A
|
August 16, 2012
Phenotypic variability of atypical 22q11.2 deletions not including TBX1
Judith M A Verhagen, Karin E M Diderich, Grétel Oudesluijs, et al.
American Journal of Human Genetics
|
September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Clinical Genetics
|
July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
Human Genetics
|
May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
Daphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
Annemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, et al.
Plos Genetics
|
May 26, 2017
Human mutations in integrator complex subunits link transcriptome integrity to brain development
Renske Oegema, David Baillat, Rachel Schot, et al.
American Journal of Human Genetics
|
October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Mutation
|
February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
Anna Sarkozy, Claudio Carta, Sonia Moretti, et al.
Techniques in Coloproctology
|
June 12, 2008
Anastomotic leaks after anterior resection for mid and low rectal cancer: survey of the Italian Society of Colorectal Surgery
C R Asteria, G Gagliardi, S Pucciarelli, et al.
Nature Communications
|
October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
M R F Reijnders, M Kousi, G M van Woerden, et al.
Page
of 35
Search research articles
Search
Showing results (281-290 of 347) with videos related to
Sort By:
Page
of 35
American Journal of Medical Genetics. Part A
|
August 16, 2012
Phenotypic variability of atypical 22q11.2 deletions not including TBX1
Judith M A Verhagen, Karin E M Diderich, Grétel Oudesluijs, et al.
American Journal of Human Genetics
|
September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Clinical Genetics
|
July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.
Human Genetics
|
May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
Daphne J Smits, Rachel Schot, Cristiana A Popescu, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
Annemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, et al.
Plos Genetics
|
May 26, 2017
Human mutations in integrator complex subunits link transcriptome integrity to brain development
Renske Oegema, David Baillat, Rachel Schot, et al.
American Journal of Human Genetics
|
October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Mutation
|
February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
Anna Sarkozy, Claudio Carta, Sonia Moretti, et al.
Techniques in Coloproctology
|
June 12, 2008
Anastomotic leaks after anterior resection for mid and low rectal cancer: survey of the Italian Society of Colorectal Surgery
C R Asteria, G Gagliardi, S Pucciarelli, et al.
Nature Communications
|
October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
M R F Reijnders, M Kousi, G M van Woerden, et al.
Page
of 35