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The Journal of Clinical Endocrinology and Metabolism
|
February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
Angela Delaney, Rita Volochayev, Brooke Meader, et al.
American Journal of Human Genetics
|
March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
Jennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Nature Genetics
|
May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics
|
January 12, 2021
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Genetics
|
September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Genetics in Medicine Open
|
September 30, 2024
Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Paola Nicoletti, Samreen Zafer, Lital Matok, et al.
Brain : a Journal of Neurology
|
December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Christopher C Y Mak, Dan Doherty, Angela E Lin, et al.
Biological Psychiatry
|
August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Brett V Johnson, Raman Kumar, Sabrina Oishi, et al.
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of 17
Search research articles
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Showing results (161-170 of 170) with videos related to
Sort By:
Page
of 17
You have reached the last page of results.
This site can display upto 170 results.
The Journal of Clinical Endocrinology and Metabolism
|
February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
Angela Delaney, Rita Volochayev, Brooke Meader, et al.
American Journal of Human Genetics
|
March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
Jennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Nature Genetics
|
May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics
|
January 12, 2021
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Genetics
|
September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Genetics in Medicine Open
|
September 30, 2024
Regulatory elements in <i>SEM1-DLX5-DLX6</i> (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Paola Nicoletti, Samreen Zafer, Lital Matok, et al.
Brain : a Journal of Neurology
|
December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Christopher C Y Mak, Dan Doherty, Angela E Lin, et al.
Biological Psychiatry
|
August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Brett V Johnson, Raman Kumar, Sabrina Oishi, et al.
Page
of 17