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Ben Hamel

Showing results (1-10 of 29) with videos related to

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The Pan African Medical Journal|March 12, 2016
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutationMohammed Saleh, Joost Commandeur, Renata Bocciardi, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Pattern of p63 mutations and their phenotypes--updateTuula Rinne, Ben Hamel, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutationEva Morava, Ben Hamel, Frans Hol, et al.
BMC Cardiovascular Disorders|November 24, 2012
Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern TanzaniaLairumbe Korduni Silangei, Venance Philis Maro, Helmut Diefenthal, et al.
European Journal of Medical Genetics|March 15, 2006
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distributionTrine Prescott, Koen Devriendt, Ben Hamel, et al.
Endocrinology, Diabetes & Metabolism Case Reports|May 15, 2023
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic fatherRahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Carpenter syndrome in a patient from TanzaniaJay Lodhia, Iago Rego-Garcia, Sengua Koipapi, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in malesKarine Poirier, Fiona Francis, Ben Hamel, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humansRiko Klootwijk, Pascal Groenen, Mascha Schijvenaars, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
The Pan African Medical Journal|March 12, 2016
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutationMohammed Saleh, Joost Commandeur, Renata Bocciardi, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Pattern of p63 mutations and their phenotypes--updateTuula Rinne, Ben Hamel, Hans van Bokhoven, et al.
American Journal of Medical Genetics. Part A|September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutationEva Morava, Ben Hamel, Frans Hol, et al.
BMC Cardiovascular Disorders|November 24, 2012
Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern TanzaniaLairumbe Korduni Silangei, Venance Philis Maro, Helmut Diefenthal, et al.
European Journal of Medical Genetics|March 15, 2006
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distributionTrine Prescott, Koen Devriendt, Ben Hamel, et al.
Endocrinology, Diabetes & Metabolism Case Reports|May 15, 2023
Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic fatherRahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Carpenter syndrome in a patient from TanzaniaJay Lodhia, Iago Rego-Garcia, Sengua Koipapi, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in malesKarine Poirier, Fiona Francis, Ben Hamel, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humansRiko Klootwijk, Pascal Groenen, Mascha Schijvenaars, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Pageof 3