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American Journal of Medical Genetics. Part A
|
June 8, 2020
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings
Karly Hampshire, Pierre-Marie Martin, Colleen Carlston, et al.
Frontiers in Pediatrics
|
April 25, 2025
Case Report: A novel missense variant in <i>ZC4H2</i>, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype
Ria Garg, Wenying Zhang, Julianne E Hartmann, et al.
Clinical Dysmorphology
|
December 1, 2007
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation
Karen Minzer-Conzetti, Erica Wu, Karin Vargervik, et al.
BMC Medical Genomics
|
July 16, 2015
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Zhongxia Qi, Linda Jo Bone Jeng, Anne Slavotinek, et al.
Human Mutation
|
January 10, 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
Deepti Anand, Smriti A Agrawal, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A
|
June 30, 2022
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype
Carolina I Galarreta, Colleen Kennedy, David R Blair, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2005
Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors
Anne Slavotinek, Melissa Parisi, Carrie Heike, et al.
Pediatric Research
|
December 26, 2025
International approaches to early identification of rare diseases and precision medicine
Tina L Cheng, Amna Ahmed Al Muhairi, Anne Slavotinek, et al.
Molecular Syndromology
|
September 26, 2022
Exome Sequencing Identifies a Novel <i>SIN3A</i> Variant in a Patient with Witteveen-Kolk Syndrome
Monica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, et al.
American Journal of Medical Genetics. Part A
|
June 21, 2016
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Teda Arunrut, Marta Sabbadini, Mahim Jain, et al.
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Search research articles
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Showing results (21-30 of 147) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
June 8, 2020
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings
Karly Hampshire, Pierre-Marie Martin, Colleen Carlston, et al.
Frontiers in Pediatrics
|
April 25, 2025
Case Report: A novel missense variant in <i>ZC4H2</i>, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype
Ria Garg, Wenying Zhang, Julianne E Hartmann, et al.
Clinical Dysmorphology
|
December 1, 2007
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation
Karen Minzer-Conzetti, Erica Wu, Karin Vargervik, et al.
BMC Medical Genomics
|
July 16, 2015
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Zhongxia Qi, Linda Jo Bone Jeng, Anne Slavotinek, et al.
Human Mutation
|
January 10, 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
Deepti Anand, Smriti A Agrawal, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A
|
June 30, 2022
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype
Carolina I Galarreta, Colleen Kennedy, David R Blair, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2005
Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors
Anne Slavotinek, Melissa Parisi, Carrie Heike, et al.
Pediatric Research
|
December 26, 2025
International approaches to early identification of rare diseases and precision medicine
Tina L Cheng, Amna Ahmed Al Muhairi, Anne Slavotinek, et al.
Molecular Syndromology
|
September 26, 2022
Exome Sequencing Identifies a Novel <i>SIN3A</i> Variant in a Patient with Witteveen-Kolk Syndrome
Monica Penon-Portmann, Colleen M Carlston, Pierre-Marie Martin, et al.
American Journal of Medical Genetics. Part A
|
June 21, 2016
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Teda Arunrut, Marta Sabbadini, Mahim Jain, et al.
Page
of 15