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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
by
Ott, Claus-Eric
,
Fischer, Björn
,
Schröter, Phillipe
,
Richter, Reyk
,
Gupta, Neerja
,
Verma, Nishant
,
Kabra, Madhulika
,
Mundlos, Stefan
,
Rajab, Anna
,
Neitzel, Heidemarie
,
Kornak, Uwe
Published in
Bone (New York, N.Y.)
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The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype
by
Trimborn, Marc
,
Richter, Reyk
,
Sternberg, Nadine
,
Gavvovidis, Ioannis
,
Schindler, Detlev
,
Jackson, Andrew P.
,
Prott, Eva-Christina
,
Sperling, Karl
,
Gillessen-Kaesbach, Gabriele
,
Neitzel, Heidemarie
Published in
Human mutation
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Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition
by
Neitzel, Heidemarie
,
Neumann, Luitgard M.
,
Schindler, Detlev
,
Wirges, Andreas
,
Tönnies, Holger
,
Trimborn, Marc
,
Krebsova, Alice
,
Richter, Reyk
,
Sperling, Karl
Published in
American journal of human genetics
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Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature
by
Tzschach, Andreas
,
Graul‐Neumann, Luitgard M.
,
Konrat, Kateryna
,
Richter, Reyk
,
Ebert, Grit
,
Ullmann, Reinhard
,
Neitzel, Heidemarie
Published in
American journal of medical genetics. Part A
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Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature
by
Tzschach, Andreas
,
Graul-Neumann, Luitgard M.
,
Konrat, Kateryna
,
Richter, Reyk
,
Ebert, Grit
,
Ullmann, Reinhard
,
Neitzel, Heidemarie
Published in
American Journal of Medical Genetics Part A
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