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Clinical genetics

Showing results (351-360 of 7,173) with videos related to

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Clinical Genetics|September 8, 2022
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expressionIan M Campbell, T Blaine Crowley, Chintan Jobaliya, et al.
Clinical Genetics|August 28, 2022
A Gardos channelopathy associated with nonimmune hydrops and fetal lossLeïla Ghesh, Thomas Besnard, Madeleine Joubert, et al.
Clinical Genetics|December 8, 2021
Embryonal sarcoma of the liver in a girl with Cockayne syndromeColin Thorbinson, Anthony Penn, Pantelis Nicola, et al.
Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.
Clinical Genetics|October 23, 2022
Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French surveyFloriane Lejamtel, Cécile Oheix, Elisa Morales, et al.
Clinical Genetics|May 1, 1979
The technical variables associated with the frequencies of QFQ, RFA and CBG heteromorphisms of human chromosomesR S Verma, H Dosik
Clinical Genetics|November 2, 2022
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial cleftingWilliam Billal Shepherd, Samantha Colaiacovo, Craig Campbell, et al.
Clinical Genetics|July 17, 2015
Genomic futures of prenatal screening: ethical reflectionW J Dondorp, G C M L Page-Christiaens, G M W R de Wert
Clinical Genetics|August 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene VariantsMartin Schwarz, Miroslav Fišer, Lenka Šodková, et al.
Clinical Genetics|August 6, 2016
Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocationsD Liang, Y Wang, X Ji, et al.
Pageof 718

Showing results (351-360 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|September 8, 2022
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expressionIan M Campbell, T Blaine Crowley, Chintan Jobaliya, et al.
Clinical Genetics|August 28, 2022
A Gardos channelopathy associated with nonimmune hydrops and fetal lossLeïla Ghesh, Thomas Besnard, Madeleine Joubert, et al.
Clinical Genetics|December 8, 2021
Embryonal sarcoma of the liver in a girl with Cockayne syndromeColin Thorbinson, Anthony Penn, Pantelis Nicola, et al.
Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.
Clinical Genetics|October 23, 2022
Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French surveyFloriane Lejamtel, Cécile Oheix, Elisa Morales, et al.
Clinical Genetics|May 1, 1979
The technical variables associated with the frequencies of QFQ, RFA and CBG heteromorphisms of human chromosomesR S Verma, H Dosik
Clinical Genetics|November 2, 2022
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial cleftingWilliam Billal Shepherd, Samantha Colaiacovo, Craig Campbell, et al.
Clinical Genetics|July 17, 2015
Genomic futures of prenatal screening: ethical reflectionW J Dondorp, G C M L Page-Christiaens, G M W R de Wert
Clinical Genetics|August 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene VariantsMartin Schwarz, Miroslav Fišer, Lenka Šodková, et al.
Clinical Genetics|August 6, 2016
Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocationsD Liang, Y Wang, X Ji, et al.
Pageof 718