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American Journal of Medical Genetics. Part A
|
August 30, 2007
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28
David J Amor, Hans-Henrik M Dahl, Melanie Bahlo, et al.
Stem Cell Research
|
February 8, 2026
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation
Inbal Kantor, Jordan L Wright, David J Amor, et al.
Prenatal Diagnosis
|
February 25, 2020
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing
David J Amor, Lyn S Chitty, Ignatia B Van den Veyver
American Journal of Medical Genetics
|
February 15, 2001
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
D J Amor, M B Delatycki, R J Gardner, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Questionable pathogenicity of FOXG1 duplication
David J Amor, Trent Burgess, Tiong Y Tan, et al.
American Journal of Human Genetics
|
July 31, 2004
Beckwith-Wiedemann syndrome and IVF: a case-control study
Jane Halliday, Kay Oke, Sue Breheny, et al.
Trends in Cell Biology
|
July 13, 2004
Building the centromere: from foundation proteins to 3D organization
David J Amor, Paul Kalitsis, Huseyin Sumer, et al.
Reproductive Biomedicine Online
|
April 14, 2010
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
M Chopra, D J Amor, L Sutton, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype
Patrick Yap, Jan E Liebelt, David J Amor, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology
|
November 2, 2020
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis
Giulia M Valente, David J Amor, Liane J Ioannou, et al.
Page
of 43
Search research articles
Search
Showing results (81-90 of 430) with videos related to
Sort By:
Page
of 43
American Journal of Medical Genetics. Part A
|
August 30, 2007
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28
David J Amor, Hans-Henrik M Dahl, Melanie Bahlo, et al.
Stem Cell Research
|
February 8, 2026
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation
Inbal Kantor, Jordan L Wright, David J Amor, et al.
Prenatal Diagnosis
|
February 25, 2020
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing
David J Amor, Lyn S Chitty, Ignatia B Van den Veyver
American Journal of Medical Genetics
|
February 15, 2001
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
D J Amor, M B Delatycki, R J Gardner, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Questionable pathogenicity of FOXG1 duplication
David J Amor, Trent Burgess, Tiong Y Tan, et al.
American Journal of Human Genetics
|
July 31, 2004
Beckwith-Wiedemann syndrome and IVF: a case-control study
Jane Halliday, Kay Oke, Sue Breheny, et al.
Trends in Cell Biology
|
July 13, 2004
Building the centromere: from foundation proteins to 3D organization
David J Amor, Paul Kalitsis, Huseyin Sumer, et al.
Reproductive Biomedicine Online
|
April 14, 2010
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
M Chopra, D J Amor, L Sutton, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype
Patrick Yap, Jan E Liebelt, David J Amor, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology
|
November 2, 2020
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis
Giulia M Valente, David J Amor, Liane J Ioannou, et al.
Page
of 43