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A Bacino

Showing results (71-80 of 173) with videos related to

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American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Clinical Genetics|September 14, 2007
Identification of proximal 1p36 deletions using array-CGH: a possible new syndromeS-H L Kang, A Scheffer, Z Ou, et al.
American Journal of Human Genetics|November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen geneStuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
Neurology|March 23, 2005
Cerebral folate deficiency with developmental delay, autism, and response to folinic acidP Moretti, T Sahoo, K Hyland, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Human Molecular Genetics|April 25, 2015
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3Shen Gu, Bo Yuan, Ian M Campbell, et al.
Clinical Pharmacokinetics|April 22, 2024
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic ModelYulan Qi, Ming Liang Chan, Diane R Mould, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acidSarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Pageof 18

Showing results (71-80 of 173) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Clinical Genetics|September 14, 2007
Identification of proximal 1p36 deletions using array-CGH: a possible new syndromeS-H L Kang, A Scheffer, Z Ou, et al.
American Journal of Human Genetics|November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen geneStuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
Neurology|March 23, 2005
Cerebral folate deficiency with developmental delay, autism, and response to folinic acidP Moretti, T Sahoo, K Hyland, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Human Molecular Genetics|April 25, 2015
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3Shen Gu, Bo Yuan, Ian M Campbell, et al.
Clinical Pharmacokinetics|April 22, 2024
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic ModelYulan Qi, Ming Liang Chan, Diane R Mould, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acidSarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Pageof 18